Literature DB >> 8554063

Multiple mutations in a specific gene in a small geographic area: a common phenomenon?

J Zlotogora, V Gieselmann, G Bach.   

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Year:  1996        PMID： 8554063      PMCID： PMC1914949     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  7 in total

1.  Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval.

Authors:  V Allamand; O Broux; I Richard; F Fougerousse; N Chiannilkulchai; N Bourg; L Brenguier; C Devaud; P Pasturaud; A Pereira de Souza
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025

2.  Jewish diseases and origins.

Authors:  A G Motulsky
Journal:  Nat Genet       Date:  1995-02       Impact factor: 38.330

3.  Consanguineous matings in an Israeli-Arab community.

Authors:  L Jaber; J E Bailey-Wilson; M Haj-Yehia; J Hernandez; M Shohat
Journal:  Arch Pediatr Adolesc Med       Date:  1994-04

Review 4.  Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants.

Authors:  J Flint; R M Harding; J B Clegg; A J Boyce
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

5.  Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan.

Authors:  D Rund; T Cohen; D Filon; C E Dowling; T C Warren; I Barak; E Rachmilewitz; H H Kazazian; A Oppenheim
Journal:  Proc Natl Acad Sci U S A       Date:  1991-01-01       Impact factor: 11.205

6.  Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.

Authors:  I Richard; O Broux; V Allamand; F Fougerousse; N Chiannilkulchai; N Bourg; L Brenguier; C Devaud; P Pasturaud; C Roudaut
Journal:  Cell       Date:  1995-04-07       Impact factor: 41.582

7.  Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.

Authors:  U Heinisch; J Zlotogora; S Kafert; V Gieselmann
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025
  7 in total
  8 in total

1.  Glutaric aciduria type I in the Arab and Jewish communities in Israel.

Authors:  Y Anikster; A Shaag; A Joseph; H Mandel; B Ben-Zeev; E Christensen; O N Elpeleg
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

2.  The Réunion paradox and the digenic model.

Authors:  J S Beckmann
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025

3.  DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene.

Authors:  V M Pratt; C E Jackson; D C Wallace; D S Gurley; A Feit; G L Feldman
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025

4.  Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations.

Authors:  Hao Hu; Vanessa Suckow; Luciana Musante; Viola Roggenkamp; Nadine Kraemer; Hans-Hilger Ropers; Christoph Hübner; Thomas F Wienker; Angela M Kaindl
Journal:  Cell Cycle       Date:  2014-04-01       Impact factor: 4.534

5.  A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.

Authors:  Avihu Boneh; Stanley H Korman; Kenichi Sato; Junko Kanno; Yoichi Matsubara; Israela Lerer; Ziva Ben-Neriah; Shigeo Kure
Journal:  J Hum Genet       Date:  2005-04-29       Impact factor: 3.172

6.  Clan genomics: From OMIM phenotypic traits to genes and biology.

Authors:  James R Lupski
Journal:  Am J Med Genet A       Date:  2021-08-18       Impact factor: 2.802

7.  Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.

Authors:  M P Sperandeo; M T Bassi; M Riboni; G Parenti; A Buoninconti; M Manzoni; B Incerti; M R Larocca; M Di Rocco; P Strisciuglio; I Dianzani; R Parini; M Candito; F Endo; A Ballabio; G Andria; G Sebastio; G Borsani
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

8.  Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.

Authors:  Carlos A Pantoja-Melendez; Antonio Miranda-Duarte; Bladimir Roque-Ramirez; Juan C Zenteno
Journal:  PLoS One       Date:  2017-01-19       Impact factor: 3.240
  8 in total

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