Human Molecular Genetics

MINI REVIEW:

Andrea Ballabio and Generoso Andria

Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses
Hum. Mol. Genet. 1992 1: 221-227; doi:10.1093/hmg/1.4.221 [Abstract] [PDF] [Request Permissions]  

ORIGINAL ARTICLES:

Yasuo Mori, Hiroki Nagse, Hiroshi Ando, Akira Horii, Shigetoshi Ichii, Shuichi Nakatsuru, Takahisa Aoki, Yoshio Miki, Takesada Mori, and Yusuke Nakamura

Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene
Hum. Mol. Genet. 1992 1: 229-233; doi:10.1093/hmg/1.4.229 [Abstract] [PDF] [Request Permissions]  

Bernhard Korn, Zdenek Sedlacek, Antonella Manca, Petra Kioschis, David Konecki, Hans Lehrach, and Annemarie Poustka

A strategy for the selection of transcribed sequences in the Xq28 region
Hum. Mol. Genet. 1992 1: 235-242; doi:10.1093/hmg/1.4.235 [Abstract] [PDF] [Request Permissions]  

Robert Morell, Thomas B. Friedman, Sukarti Moeljopawiro, Hartono, Soewito, and James H. Asher, Jr.

A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family
Hum. Mol. Genet. 1992 1: 243-247; doi:10.1093/hmg/1.4.243 [Abstract] [PDF] [Request Permissions]  

Michael J. Dixon, Jill Dixon, Dagmar Raskova, Michelle M. Le Beau, Robert Williamson, Katherine Kinger, and Gregory M. Landes

Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2
Hum. Mol. Genet. 1992 1: 249-253; doi:10.1093/hmg/1.4.249 [Abstract] [PDF] [Request Permissions]  

V. Biancalana, F. Serville, J. Prommier, J. Julien, A. Hanauer, and J. L. Mandel

Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy
Hum. Mol. Genet. 1992 1: 255-258; doi:10.1093/hmg/1.4.255 [Abstract] [PDF] [Request Permissions]  

Gwennaele A. Fichant

Constraints acting on the exon positions of the splice site sequences and local amino acid composition of the protein
Hum. Mol. Genet. 1992 1: 259-267; doi:10.1093/hmg/1.4.259 [Abstract] [PDF] [Request Permissions]  

Ans M.W.van den Ouweland, Petra Kioschis, Marian Verdijk, Filippo Tamanini, Daniela Toniolo, Annemarie Poustka, and Bernard Van Oost

Identification and characterization of a new gene in the human Xq28 region
Hum. Mol. Genet. 1992 1: 269-273; doi:10.1093/hmg/1.4.269 [Abstract] [PDF] [Request Permissions]  

Elena Maestrini, Filippo Tamanini, Petra Kioschis, Elisabeth Gimbo, Paola Marinelli, Carla Tribioli, Michele D'Urso, Giuseppe Palmieri, Annemarie Poustka, and Daniela Toniolo

An archipelago of CpG islands in Xq28: identification and fine mapping of 20 new CpG islands of the human X chromosome
Hum. Mol. Genet. 1992 1: 275-280; doi:10.1093/hmg/1.4.275 [Abstract] [PDF] [Request Permissions]  

MUTATION REPORTS:

N. Fonknechten, J.-C. Chomel, A. Kitzis, A. Kahn, and J.-C. Kaplan

Skipping of exon 5 as a consequence of the 711 + 1 GT mutation in the CFTR qene
Hum. Mol. Genet. 1992 1: 281-282; doi:10.1093/hmg/1.4.281 [PDF] [Request Permissions]  

Harry Cuppens, Ourida Loumi, Peter Marynen, and Jean-Jacques Cassiman

Identification of a new frameshift mutation and a duplication polymorphism in the CFTR gene in the Algerian population
Hum. Mol. Genet. 1992 1: 283-284; doi:10.1093/hmg/1.4.283 [PDF] [Request Permissions]  

DNA MARKERS AND POLYMORPHISMS:

E.I. Rogaev, S.A. Keryanov, and Y.K. Malyako

Dinucleotide repeat polymorphisms at the P1, HBE1 and MYH7 loci
Hum. Mol. Genet. 1992 1: 285; doi:10.1093/hmg/1.4.285 [PDF] [Request Permissions]  

Joseph Nahmias, Mari-Wyn Burley, Sue Povey, Chris Porter, Ian Craig, and Jonathan Wolfe

A 19 bp deletion polymorphism adjacent to a dinucleotide repeat polymorphism at the human dopamine ß-hydroxylase locus
Hum. Mol. Genet. 1992 1: 286; doi:10.1093/hmg/1.4.286 [PDF] [Request Permissions]  

V. Nguyen, P. Haddad, and D.W. Cox

Polymorphism of the CTLA1 gene on chromosome 14
Hum. Mol. Genet. 1992 1: 286; doi:10.1093/hmg/1.4.286-a [PDF] [Request Permissions]  

C. Kimpton, A. Walton, and P. Gill

A further tetranucleotide repeat polymorphism in the vWF gene
Hum. Mol. Genet. 1992 1: 287; doi:10.1093/hmg/1.4.287 [PDF] [Request Permissions]  

Paul Bodfish, Diane Warne, Kerstin Nyberg, and Nigel K. Spurr

Dinucleotide repeat polymorphism at the human erythroid alpha-spectrin (SPTA1) mRNA gene detected using PCR
Hum. Mol. Genet. 1992 1: 287; doi:10.1093/hmg/1.4.287-a [PDF] [Request Permissions]  

A.K. Sander, S. Liechti-Gallati, N. Kunze, H. Moser, M. Zingg, and J. Raveh

An EcoRI polymorphism for the glutaminyl-tRNA synthetase (QARS) gene on chromosome 1q
Hum. Mol. Genet. 1992 1: 288; doi:10.1093/hmg/1.4.288 [PDF] [Request Permissions]  

Wendy H. Raskind, John Wolff, Lynn D. Hudson, and Thomas D. Bird

RFLP detected by a genomic probe from the human X-Iinked proteolipid protein gene, PLP
Hum. Mol. Genet. 1992 1: 288; doi:10.1093/hmg/1.4.288-a [PDF] [Request Permissions]  

V. Sharma, P.de. Jong, K. Yokobata, and M. Litt

Dinucleotide repeat polymorphism at the D21S236 locus
Hum. Mol. Genet. 1992 1: 289; doi:10.1093/hmg/1.4.289 [PDF] [Request Permissions]  

V. Sharma, Z. Guo, and M. Litt

Dinucleotide repeat polymorphism at the D18S37 locus
Hum. Mol. Genet. 1992 1: 289; doi:10.1093/hmg/1.4.289-a [PDF] [Request Permissions]  

Mihael Polymeropoulos, Hong Xiao, and Carl R. Merril

Dinucleotide repeat polymorphism at the D5S356 locus
Hum. Mol. Genet. 1992 1: 290; doi:10.1093/hmg/1.4.290 [PDF] [Request Permissions]  

Hong Xiao, Carl R. Merril, and Mihael Polymeropoulos

Dinucleotide repeat polymorphism at the D3S1229 locus
Hum. Mol. Genet. 1992 1: 290; doi:10.1093/hmg/1.4.290-a [PDF] [Request Permissions]  

Author index:

Author index
Hum. Mol. Genet. 1992 1: 291; doi:10.1093/hmg/1.4.291 [PDF] [Request Permissions]  

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