Hum. Mol. Genet. -- Table of Contents (1 [3] )

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Contents: Volume 1, Number 3   June 1992   [Index by Author]

       MINI REVIEW

       ORIGINAL ARTICLES

       SHORT COMMUNICATION

       MUTATION REPORTS

       DNA MARKERS AND POLYMORPHISMS

       Author index

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To see an article, click its [Full Text] or [PDF] link. To review many abstracts, check the boxes to the left of the titles you want, and click the 'Get All Checked Abstract(s)' button. To see one abstract at a time, click its [Abstract] link.

MINI REVIEW:

John Bell: ACE (or PNMT?) in the hole
Hum. Mol. Genet. 1992 1: 147-148; doi:10.1093/hmg/1.3.147 [PDF] [Request Permissions]

ORIGINAL ARTICLES:

Jian Zuo, Carolyn Robbins, Patricia Taillon-Miller, David R. Cox, and Richard M. Myers: Cloning of the Huntington disease region in yeast artificial chromosomes
Hum. Mol. Genet. 1992 1: 149-159; doi:10.1093/hmg/1.3.149 [Abstract] [PDF] [Request Permissions]

Z.-Y. Chen, K.B. Sims, M. Coleman, D. Donnai, A. Monaco, X.O. Breakefield, K.E. Davies, and I.W. Craig: Characterization of a YAC containing part or all of the Norrie disease locus
Hum. Mol. Genet. 1992 1: 161-164; doi:10.1093/hmg/1.3.161 [Abstract] [PDF] [Request Permissions]

Liana Fidani, Karen Rooke, Marie-Christine Chartier-Harlin, David Hughes, Rudi Tanzi, Mike Mullan, Penelope Roques, Martin Rossor, John Hardy, and Alison Goate: Screening for mutations in the open reading frame and promoter of the ß-amyloid precursor protein gene in familial Alzheimer's disease: identification of a further family with APP717 Val $->$ lle
Hum. Mol. Genet. 1992 1: 165-168; doi:10.1093/hmg/1.3.165 [Abstract] [PDF] [Request Permissions]

Amanda Spurdle and Trefor Jenkins: The search for Y chromosome polymorphism is extended to negroids
Hum. Mol. Genet. 1992 1: 169-170; doi:10.1093/hmg/1.3.169 [Abstract] [PDF] [Request Permissions]

Margaret Town, Jose M. Bautista, Philip J. Mason, and Lucio Luzzatto: Both mutations in G6PD A — are necessary to produce the G6PD deficient phenotype
Hum. Mol. Genet. 1992 1: 171-174; doi:10.1093/hmg/1.3.171 [Abstract] [PDF] [Request Permissions]

Margret R. Hoehe, Rosemarie Plaetke, Brith Otterud, Dora Stauffer, John Holik, William F. Byerley, E. Edward Baetge, Elliot S. Gershon, Jean-Marc Lalouel, and Mark Leppert: Genetic linkage of the human gene for phenylethanol-amine N-methyltransferase (PNMT), the adrenaline-synthesizing enzyme, to DNA markers on chromosome 17q21–q22
Hum. Mol. Genet. 1992 1: 175-178; doi:10.1093/hmg/1.3.175 [Abstract] [PDF] [Request Permissions]

Susan Kenwrick, Barbara Levinson, Sherry Taylor, Amy Shapiro, and Jane Gitschier: Isolation and sequence of two genes associated with a CpG island 5' of the factor VIII gene
Hum. Mol. Genet. 1992 1: 179-186; doi:10.1093/hmg/1.3.179 [Abstract] [PDF] [Request Permissions]

Rudolf W. Hendriks, Zheng-Yi Chen, Heather Hinds, Ruud K. B. Schuurman, and Ian W. Craig: An X chromosome inactivation assay based on differential methylation of a CpG island coupled to a VNTR polymorphism at the 5' end of the monoamine oxidase A gene
Hum. Mol. Genet. 1992 1: 187-194; doi:10.1093/hmg/1.3.187 [Abstract] [PDF] [Request Permissions]

M.-L. Steén-Bondeson, N. Dahl, T. Tönnesen, W.J. Kleijer, G. Seidlitz, K.-H. Gustavson, P.J. Wilson, C.P. Morris, J.J. Hopwood, and U. Pettersson: Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene
Hum. Mol. Genet. 1992 1: 195-198; doi:10.1093/hmg/1.3.195 [Abstract] [PDF] [Request Permissions]

SHORT COMMUNICATION:

Jane Gitschier and William I. Wood: Sequence of the exon-containing regions of the human factor VIII gene
Hum. Mol. Genet. 1992 1: 199-200; doi:10.1093/hmg/1.3.199 [PDF] [Request Permissions]

MUTATION REPORTS:

Wanguo Liu, Jeffrey Vance, and David I. Smith: cA479 (D3S719): a cosmid mapped telomeric of the Von Hippel Lindau disease gene contains the D3S18 locus
Hum. Mol. Genet. 1992 1: 201; doi:10.1093/hmg/1.3.201 [PDF] [Request Permissions]

Isabelle Savre-Train, Mieczyslaw A. Piatyszek, and Jerry W. Shay: Transcription of deleted mitochondrial DNA in human colon adenocarcinoma cells
Hum. Mol. Genet. 1992 1: 203-204; doi:10.1093/hmg/1.3.203 [PDF] [Request Permissions]

Liuh-l Perng, Shyh-Shin Chiou, Ta-Chih Liu, and Jan-Gowth Chang: A novel C to T substitution at nucleotide 1360 of cDNA which abolishes a natural Hha l site accounts for a new G6PD deficiency gene in Chinese
Hum. Mol. Genet. 1992 1: 205; doi:10.1093/hmg/1.3.205 [PDF] [Request Permissions]

Kishor Bhatia, Marina I. Gutierrez, and Ian T. Magrath: A novel mutation in the p53 gene in a Burkitt's lymphoma cell line
Hum. Mol. Genet. 1992 1: 207-208; doi:10.1093/hmg/1.3.207 [PDF] [Request Permissions]

A. Ahluwalia, C.M. Corcoran, T.J. Vulliamy, C.S. Ishwad, J.M. Naidu, A. Argusti, D.J. Stevens, P.J. Mason, and L. Luzzatto: G6PD Kalyan and G6PD Kerala; two deficient variants in India caused by the same 317 Glu ${uparrow}$ Lys mutation
Hum. Mol. Genet. 1992 1: 209-210; doi:10.1093/hmg/1.3.209 [PDF] [Request Permissions]

DNA MARKERS AND POLYMORPHISMS:

Nigel K. Spurr: Standards for reporting alleles at highly polymorphic loci: a proposal
Hum. Mol. Genet. 1992 1: 211-212; doi:10.1093/hmg/1.3.211 [PDF] [Request Permissions]

D. Browne, D. Barker, and M. Litt: Dinucleotide repeat polymorphisms at the DXS365, DXS443 and DXS451 loci
Hum. Mol. Genet. 1992 1: 213; doi:10.1093/hmg/1.3.213 [PDF] [Request Permissions]

T. Phromchotikul, D. Browne, and M. Litt: Microsatellite polymorphisms at the D11S554 and D11S569 loci
Hum. Mol. Genet. 1992 1: 214; doi:10.1093/hmg/1.3.214 [PDF] [Request Permissions]

Danilo A. Tagle, Kristina L. Blanchard-McQuate, and Francis S. Collins: Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S43 locus
Hum. Mol. Genet. 1992 1: 215; doi:10.1093/hmg/1.3.215 [PDF] [Request Permissions]

Edward R. Wilcox, Marcelo N. Rivolta, Barbara Ploplis, Steven B. Potterf, and Jörgen Fex: The PAX3 gene is mapped to human chromosome 2 together with a highly informative CA dinucleotide repeat
Hum. Mol. Genet. 1992 1: 215; doi:10.1093/hmg/1.3.215-a [PDF] [Request Permissions]

R.Cutler Allen and John W. Belmont: Dinucleotide repeat polymorphism at the DXS178 locus
Hum. Mol. Genet. 1992 1: 216; doi:10.1093/hmg/1.3.216 [PDF] [Request Permissions]

X. Li, M. Jaye, G. Crumley, and E.W. Jabs: Dinucleotide repeat polymorphism in the human fibroblast growth factor acidic (FGFA) gene on chromosome 5
Hum. Mol. Genet. 1992 1: 216; doi:10.1093/hmg/1.3.216-a [PDF] [Request Permissions]

G.G. Lennon, J. Lamerdin, K. Lieuallen, C. Amemiya, C. Aslanidis, P.J.de Jong, and A.V Carrano: An STS from a cDNA located in the myotonic dystrophy region (DM) on human chromosome 19q13.3
Hum. Mol. Genet. 1992 1: 217; doi:10.1093/hmg/1.3.217 [PDF] [Request Permissions]

Tomi P. Mäkelä, Elina Hellsten, Jouni Vesa, Kari Alitalo, and Leena Peltonen: An Alu variable polyA repeat polymorphism upstream of L-myc at 1p32
Hum. Mol. Genet. 1992 1: 217; doi:10.1093/hmg/1.3.217-a [PDF] [Request Permissions]

Eleanor Dow, Anne C. Ferguson-Smith, Benjamin Caplin, and Robert Williamson: Dinucleotide repeat polymorphism at the HOX 2B locus
Hum. Mol. Genet. 1992 1: 218; doi:10.1093/hmg/1.3.218 [PDF] [Request Permissions]

A. Hentati, P. Hu, S. Asgharzadeh, and T. Siddique: Dinucleotide repeat polymorphism at the human erythroid alpha spectrin (SPTA1) locus
Hum. Mol. Genet. 1992 1: 218; doi:10.1093/hmg/1.3.218-a [PDF] [Request Permissions]

Author index:

: Author index
Hum. Mol. Genet. 1992 1: 219; doi:10.1093/hmg/1.3.219 [PDF] [Request Permissions]