Literature DB >> 9452111

Mutation analysis in 11 French patients with Fabry disease.

N Guffon1, R Froissart, F Chevalier-Porst, I Maire.   

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Year:  1998        PMID： 9452111     DOI： 10.1002/humu.1380110190

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  5 in total

1.  GLA missense and promoter variants co-segregating in a Chinese family with Fabry disease.

Authors:  Zhe-Yi Dong; Qian Wang; Shu-Peng Lin; Pu Chen; Jiao-Na Liu; Shu-Wen Liu; Guang-Yan Cai; Xiang-Mei Chen; Quan Hong
Journal:  Ann Transl Med       Date:  2020-07

2.  Structure-function relationships in alpha-galactosidase A.

Authors:  Scott C Garman
Journal:  Acta Paediatr       Date:  2007-04       Impact factor: 2.299

Review 3.  Fabry's disease: an example of cardiorenal syndrome type 5.

Authors:  Aashish Sharma; Marco Sartori; Jose J Zaragoza; Gianluca Villa; Renhua Lu; Elena Faggiana; Alessandra Brocca; Luca Di Lullo; Sandro Feriozzi; Claudio Ronco
Journal:  Heart Fail Rev       Date:  2015-11       Impact factor: 4.214

4.  Structural characterization of mutant alpha-galactosidases causing Fabry disease.

Authors:  Kanako Sugawara; Kazuki Ohno; Seiji Saito; Hitoshi Sakuraba
Journal:  J Hum Genet       Date:  2008-07-17       Impact factor: 3.172

Review 5.  Fabry disease.

Authors:  Dominique P Germain
Journal:  Orphanet J Rare Dis       Date:  2010-11-22       Impact factor: 4.123
  5 in total

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