Literature DB >> 7581405

New point mutation (R301X) of the alpha-galactosidase A gene causing Fabry disease.

C Kawanishi1, H Osaka, K Inoue, H Onishi, Y Yamada, N Sugiyama, K Suzuki, T Hanihara, T Miyagawa, S Kimura.   

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Year:  1995        PMID： 7581405     DOI： 10.1002/humu.1380060214

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


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  2 in total

1.  Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

Authors:  I Redonnet-Vernhet; J K Ploos van Amstel; R P Jansen; R A Wevers; R Salvayre; T Levade
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

2.  Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease.

Authors:  Antonio Pisani; Aurora Daniele; Carmela Di Domenico; Ersilia Nigro; Francesco Salvatore; Eleonora Riccio
Journal:  BMC Res Notes       Date:  2015-11-24
  2 in total

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