Volume 7; Issue 3

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Human Mutation
Volume 7; Issue 3

Human Mutation

Volume 7; Issue 3

1

Molecular basis of congenital erythropoietic porphyria: Mutations in the human uroporphyrinogen III synthase gene

Weiming Xu, Kenneth H. Astrin, Robert J. Desnick

Journal:

Year:

1996

Language:

english

File:

PDF, 541 KB

english, 1996

2

Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging

Leen M. 't Hart, Janna J. Jansen, Herman H.P.J. Lemkes, Peter de Knijff, J. Antonie Maassen

Journal:

Year:

1996

Language:

english

File:

PDF, 492 KB

english, 1996

3

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus

Francesca Capon, Chiarina Levato, Elena Bussaglia, Stefania Lo Cicero, Eduardo F. Tizzano, Monserrat Baiget, Vincenzo Silani, Antonio Pizzuti, Giuseppe Novelli, Bruno Dallapiccola

Journal:

Year:

1996

Language:

english

File:

PDF, 463 KB

english, 1996

4

Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epidemiological analyses

Ellen M.G. De Vries, Darrell O. Ricke, Thomas N. De Vries, Arndt Hartmann, Hagen Blaszyk, Dongzhou Liao, Thierry Soussi, John S. Kovach, Steve S. Sommer

Journal:

Year:

1996

Language:

english

File:

PDF, 978 KB

english, 1996

5

Gaucher disease: Identification of three new mutations in the Korean and Chinese (Taiwanese) populations

Jong-Won Kim, Benjamin B. Liou, Ming-Yang Lai, Elvira Ponce, Gregory A. Grabowski

Journal:

Year:

1996

Language:

english

File:

PDF, 466 KB

english, 1996

6

Splice site mutation causing deletion of exon 21 sequences from the proα2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta

Alan C. Nicholls, Jane Oliver, Seamus McCarron, Gerald B. Winter, F. Michael Pope

Journal:

Year:

1996

Language:

english

File:

PDF, 672 KB

english, 1996

7

PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme

Hans Geir Eiken, Per M. Knappskog, Jaran Apold, Torgeir Flatmark

Journal:

Year:

1996

Language:

english

File:

PDF, 946 KB

english, 1996

8

Fumarylacetoacetase mutations in tyrosinaemia type I

Helge Rootwelt, Kari Høie, Ruud Berger, Eli Anne Kvittingen

Journal:

Year:

1996

Language:

english

File:

PDF, 467 KB

english, 1996

9

Cystic fibrosis mutation detection by hybridization to light-generated DNA probe arrays

Maureen T. Cronin, Raymond V. Fucini, Soo Mee Kim, Richard S. Masino, Rita M. Wespi, C. Garrett Miyada

Journal:

Year:

1996

Language:

english

File:

PDF, 1.18 MB

english, 1996

10

Sensitive and fast mutation detection by solid phase chemical cleavage

Lise Lotte Hansen, Just Justesen, Torben A. Kruse

Journal:

Year:

1996

Language:

english

File:

PDF, 685 KB

english, 1996

11

Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia c gene, FAC

Jerome R. Lo Ten Foe, Martin A. Rooimans, Hans Joenje, Fré Arwert

Journal:

Year:

1996

Language:

english

File:

PDF, 180 KB

english, 1996

12

A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient

A.M. Birot, B. Delobel, P. Gronnier, V. Bonnet, I. Maire, D. Bozon

Journal:

Year:

1996

Language:

english

File:

PDF, 271 KB

english, 1996

13

Two point mutations (313 + 1G→A and 313 + 1G→T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associated with familial hypercholesterolemia

H.K. Jensen, L.G. Jensen, P.S. Hansen, O. Færgeman, N. Gregersen

Journal:

Year:

1996

Language:

english

File:

PDF, 265 KB

english, 1996

14

Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the β-glucocerebrosidase gene in Gaucher's disease patients

Bru Cormand, Lluïsa Vilageliu, Susana Balcells, Roser Gonzàlez-Duarte, Amparo Chabás, Daniel Grinberg

Journal:

Year:

1996

Language:

english

File:

PDF, 298 KB

english, 1996

15

Somatic mutations of a human mismatch repair gene, hMLH1, in tumors from patients with multiple primary cancers

Shin Sasaki, Akira Horii, Mamoru Shimada, Hye-Jung Han, Akio Yanagisawa, Tetsuichiro Muto, Yusuke Nakamura

Journal:

Year:

1996

Language:

english

File:

PDF, 336 KB

english, 1996

16

A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female

Laurie A. Demmer, Jean M. Kim, Berengere de Martinville, S. Bruce Dowton

Journal:

Year:

1996

Language:

english

File:

PDF, 85 KB

english, 1996

17

Sequence variation in intron of prion protein gene, crucial for complete diagnostic strategies

Mark S. Palmer, Ronald H. van Leeven, Sukhvir P. Mahal, Tracy A. Campbell, Christine B. Humphreys, John Collinge

Journal:

Year:

1996

Language:

english

File:

PDF, 143 KB

english, 1996

18

Masthead

Journal:

Year:

1996

Language:

english

File:

PDF, 115 KB

english, 1996

19

Announcement

Journal:

Year:

1996

Language:

english

File:

PDF, 56 KB

english, 1996