Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.

Efforts were directed to identify the specific mutations in the alpha-galactosidase A (alpha-Gal A) gene which cause Fabry disease in families of Japanese origin. By polymerase-chain-reaction-amplification of DNA from reverse-transcribed mRNA and genomic DNA, different point mutations were found in...

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Main Authors: Sakuraba, H, Oshima, A, Fukuhara, Y, Shimmoto, M, Nagao, Y, Bishop, D F, Desnick, R J, Suzuki, Y
Formato: Artigo
Idioma:Inglês
Publicado em: 1990
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683686/
https://ncbi.nlm.nih.gov/pubmed/2171331
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