Human Molecular Genetics

ARTICLES:

Allan L. Reiss, Haig H. Kazazian, Jr, Claudia M. Krebs, Audrey McAughan, Corinne D. Boehm, Michael T. Abrams, and David L. Nelson

Frequency and stability of the fragile X premutation
Hum. Mol. Genet. 1994 3: 393-398; doi:10.1093/hmg/3.3.393 [Abstract] [PDF] [Request Permissions]  

James N. Macpherson, Hilary Bullman, Sheila A. Youings, and Patricia A. Jacobs

Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation
Hum. Mol. Genet. 1994 3: 399-405; doi:10.1093/hmg/3.3.399 [Abstract] [PDF] [Request Permissions]  

REPORTS:

Volker H. Haase, James A. Trofatter, Mla MacCollin, Emma Tarttelln, James F. Gusella, and Vijaya Ramesh

The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms
Hum. Mol. Genet. 1994 3: 407-411; doi:10.1093/hmg/3.3.407 [Abstract] [PDF] [Request Permissions]  

Lee B. Jacoby, Mia MacCollin, David N. Louls, Trina Mohney, Mari-Paz Rublo, Karen Pulaski, James A. Trofatter, Nikolai Kley, Bernd Seizinger, Vijaya Ramesh, and James F. Gusella

Exon scanning for mutation of the NF2 gene in schwannomas
Hum. Mol. Genet. 1994 3: 413-419; doi:10.1093/hmg/3.3.413 [Abstract] [PDF] [Request Permissions]  

Christopher Hassett, Lauri Alcher, Jaspreet S. Sidhu, and Curtls J. Omieclnskl

Human microsomal epoxide hydrolase: genetic poloymorphism and functional expression in vitro of amino acid variants
Hum. Mol. Genet. 1994 3: 421-428; doi:10.1093/hmg/3.3.421 [Abstract] [PDF] [Request Permissions]  

Irma Colombo, Gaetano Finocchlaro, Barbara Garavaglia, Nicoletta Garbugllo, S. Yamaguchl, F.E. Frerman, Bruno Berra, and Stefano DiDonato

Mutations and polymorphisms of the gene encoding the ß-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II
Hum. Mol. Genet. 1994 3: 429-435; doi:10.1093/hmg/3.3.429 [Abstract] [PDF] [Request Permissions]  

P. Magnaghi, E. Citterio, N. Malgarettl, F. Acquati, S. Ottolenghi, and R. Taramelli

Molecular characterisation of the human apo(a)-plasminogen gene family clustered on the telomeric region of chromosome 6 (6q26 – 27)
Hum. Mol. Genet. 1994 3: 437-442; doi:10.1093/hmg/3.3.437 [Abstract] [PDF] [Request Permissions]  

Lucy J. Curtis, Vivien J. Bubb, Sarah Gledhlll, Robert G. Morris, Colin C. Bird, and Andrew H. Wyllle

Loss of heterozygosity of MCC is not associated with mutation of the retained allele in sporadic colorectal cancer
Hum. Mol. Genet. 1994 3: 443-446; doi:10.1093/hmg/3.3.443 [Abstract] [PDF] [Request Permissions]  

J. M. Bonifas, J. W. Bare, R. L. Kerschmann, S. P. Master, and E. H. Epstein, Jr.

Parental origin of chromosome 9q22.3–q31 lost in basal cell carcinomas from basal cell nevus syndrome patients
Hum. Mol. Genet. 1994 3: 447-448; doi:10.1093/hmg/3.3.447 [Abstract] [PDF] [Request Permissions]  

Vittorla Petruzzella, Carlos T. Moraes, Mary C. Sano, S Eduardo Bonilla, Salvatore DiMauro, and Eric A. Schon

Extremely high levels of mutant mtDNAs co-localize with cytocohrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243
Hum. Mol. Genet. 1994 3: 449-454; doi:10.1093/hmg/3.3.449 [Abstract] [PDF] [Request Permissions]  

Rumaisa Bashlr, Tom Strachan, Sharon Keers, Anthea Stephenson, Ibrahim Mahjneh, Giamplero Marconi, Lina Nashef, and Kate M. D. Bushby

A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p
Hum. Mol. Genet. 1994 3: 455-457; doi:10.1093/hmg/3.3.455 [Abstract] [PDF] [Request Permissions]  

Louise R. Simard, Gary Prescott, Camille Rochette, Kenneth Morgan, Bernard Lemleux, Jean Mathleu, Serge B. Melançon, and Michel Vanasse

Linkage disequilibrium analysis of childhood-onset spinal muscular atrophy (SMA) in the French — Canadian population
Hum. Mol. Genet. 1994 3: 459-463; doi:10.1093/hmg/3.3.459 [Abstract] [PDF] [Request Permissions]  

Tatsushi Toda, Aritoshi llda, Tokiko Mlwa, Yusuke Nakamura, and Takashi Imal

Isolation and characterization of a novel gene encoding nuclear protein at a locus (D11S636) tightly linked to multiple endocrine neoplasia type 1 (MEN1)
Hum. Mol. Genet. 1994 3: 465-470; doi:10.1093/hmg/3.3.465 [Abstract] [PDF] [Request Permissions]  

Kathleen A. Quane, Katherine E. Keating, Bernadette M. Manning, J.M.Sandra Healy, Koen Monsleurs, James J.A. Heffron, Mary Lehane, Luc Heytens, Renee Krivosic-Horber, Pascal Adnet, F.Richard Ellis, Nicole Monnler, Joel Lunardl, and Tommie V. McCarthy

Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies
Hum. Mol. Genet. 1994 3: 471-476; doi:10.1093/hmg/3.3.471 [Abstract] [PDF] [Request Permissions]  

Pavel Martasek, Yves Nordmann, and Bernard Grandchamp

Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms
Hum. Mol. Genet. 1994 3: 477-480; doi:10.1093/hmg/3.3.477 [Abstract] [PDF] [Request Permissions]  

Carole A. Sargent, Michael J. Anderson, Shie-Liang Hsieh, Elaine Kendall, Natalia Gomez-Escobar, and R.Duncan Campbell

Characterisation of the novel gene G11 lying adjacent to the complement C4A gene in the human major histocompatibility complex
Hum. Mol. Genet. 1994 3: 481-488; doi:10.1093/hmg/3.3.481 [Abstract] [PDF] [Request Permissions]  

Eric D. Green, Jacquelyn R. ldol, Rose M. Mohr-Tldwell, Valerie V. Braden, Dale C. Peluso, Robert S. Fulton, Hillary F. Massa, Charles L. Magness, Alllson M. Wllson, Joe Kimura, Jean Welssenbach, and Barbara J. Trask

Integration of physical, genetic and cytogenetic maps of human chromosome 7: isolation and analysis of yeast artificial chromosome clones for 117 mapped genetic markers
Hum. Mol. Genet. 1994 3: 489-501; doi:10.1093/hmg/3.3.489 [Abstract] [PDF] [Request Permissions]  

MUTATION REPORTS:

J.K. Ploos van Amstel, R.P. M. Jansen, J.G.N. de Jong, B.C.J. Hamel, and R.A. Wevers

Six novel mutations in the -galactosidase A gene in families with Fabry disease
Hum. Mol. Genet. 1994 3: 503-505; doi:10.1093/hmg/3.3.503 [PDF] [Request Permissions]  

Rita M. Dharmavaram, Margaret A. Elberson, Minzhong Peng, Lisa A. Kirson, Thaddeus E. Kelley, and Sergio A. Jimenez

Identification of a mutation in type X collagen in a family with Schmid metaphyseal chondrodysplasia
Hum. Mol. Genet. 1994 3: 507-509; doi:10.1093/hmg/3.3.507 [PDF] [Request Permissions]  

Swama L. Madhatheri, Gerard Tromp, Karl-Henrik Gustavson, and Helena Kulvanlemi

Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers–Danlos syndrome type IV
Hum. Mol. Genet. 1994 3: 511-512; doi:10.1093/hmg/3.3.511 [PDF] [Request Permissions]  

Alexey Savov, Albena Jordanova, Dimitar Gavrilov, Dora Angelicheva, and Luba Kalaydjieva

G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient
Hum. Mol. Genet. 1994 3: 513-514; doi:10.1093/hmg/3.3.513 [PDF] [Request Permissions]  

Eva Nells, Vincent Timmerman, Peter De Jonghe, and Christine Van Broeckhoven

Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot—Marie— Tooth disease type 1
Hum. Mol. Genet. 1994 3: 515-516; doi:10.1093/hmg/3.3.515 [PDF] [Request Permissions]  

DNA MARKERS AND POLYMORPHISMS:

Steven Bleyl, Peter Ainsworth, Lesa Nelson, Dave Viskochil, and Kenneth Ward

An ancient Ta subclass L1 insertion results in an intragenic polymorphism in an intron of the NF1 gene
Hum. Mol. Genet. 1994 3: 517-518; doi:10.1093/hmg/3.3.517 [PDF] [Request Permissions]  

Joanne C. Porter and Jenniter M. Puck

Seven chromosome 22 STR polymorphisms
Hum. Mol. Genet. 1994 3: 519; doi:10.1093/hmg/3.3.519 [PDF] [Request Permissions]  

Deborah Loeb, Wango Lui, David I. Smith, and Jeffery M. Vance

Dinucleotide repeat polymorphism in the VHL region
Hum. Mol. Genet. 1994 3: 520; doi:10.1093/hmg/3.3.520 [PDF] [Request Permissions]  

Margaret J. Lin, Sam S. Parsia, Demitri F. Papolos, and Herbert M. Lachman

Highly polymorphic sequence variation in calcineurin B coding region (PPP3R1)
Hum. Mol. Genet. 1994 3: 520; doi:10.1093/hmg/3.3.520-a [PDF] [Request Permissions]  

Eero Jokinen, Juro Sakai, Tokuo Yamamoto, and Helen H. Hobbs

CGG triple repeat polymorphism in VLDL receptor (VLDL-R) gene
Hum. Mol. Genet. 1994 3: 521; doi:10.1093/hmg/3.3.521 [PDF] [Request Permissions]  

Li Mao and David Sidransky

Tetranucleotide repeat polymorphism in RAF1
Hum. Mol. Genet. 1994 3: 521; doi:10.1093/hmg/3.3.521-a [PDF] [Request Permissions]  

Frank Skorpen and Hans E. Krokan

Bg/ll polymorphism in the UNG gene in 4 populations
Hum. Mol. Genet. 1994 3: 522; doi:10.1093/hmg/3.3.522 [PDF] [Request Permissions]  

J. J. Saris, R.H.A.M. Vossen, and E. Bakker

A CA repeat polymorphism at D11S1383
Hum. Mol. Genet. 1994 3: 522; doi:10.1093/hmg/3.3.522-a [PDF] [Request Permissions]  

S.C. King, P.M. Stapleton, A.P. Walker, and D.R. Love

Two dinucleotide repeat polymorphisms at the DMD locus
Hum. Mol. Genet. 1994 3: 523; doi:10.1093/hmg/3.3.523 [PDF] [Request Permissions]  

C. Lenzner, G. Jacobasch, A. Reis, B. Thiele, and P. Nürnberg

Trinucleotide repeat polymorphism at the PKLR locus
Hum. Mol. Genet. 1994 3: 523; doi:10.1093/hmg/3.3.523-a [PDF] [Request Permissions]  

NEW HUMAN DNA POLYMORPHISMS:

New human DNA polymorphisms submitted to the genome data base
Hum. Mol. Genet. 1994 3: 525-527; doi:10.1093/hmg/3.3.525 [PDF] [Request Permissions]  

Author index:

Author index
Hum. Mol. Genet. 1994 3: 529; doi:10.1093/hmg/3.3.529 [PDF] [Request Permissions]  

Corrigendum:

A. Savov, B. Mercier, L. Kalaydjieva, and C. Férec

Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing
Hum. Mol. Genet. 1994 3: 530; doi:10.1093/hmg/3.3.530 [Abstract] [PDF] [Request Permissions]  

ERRATUM:

B. Lin, J. Nasir, H. MacDonald, G. Hutchinson, R.K. Graham, J.M. Rommens, and M.R. Hayden

Sequence of the murine Huntington disease gene: evidence for conservation, alternate splicing and polymorphism in a triplet (CCG) repeat
Hum. Mol. Genet. 1994 3: 530; doi:10.1093/hmg/3.3.530-a [Abstract] [PDF] [Request Permissions]  

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