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Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations
Junaid Shabbeer,Makiko Yasuda,Stacy D Benson,Robert J DesnickVolume:
2
Language:
english
Journal:
Human Genomics
DOI:
10.1186/1479-7364-2-5-297
Date:
December, 2006
File:
PDF, 508 KB
english, 2006