טוען...

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...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
Main Authors: Sakuraba, H, Oshima, A, Fukuhara, Y, Shimmoto, M, Nagao, Y, Bishop, D F, Desnick, R J, Suzuki, Y
פורמט: Artigo
שפה:Inglês
יצא לאור: 1990
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683686/
https://ncbi.nlm.nih.gov/pubmed/2171331
תגים: הוספת תג
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