Title : Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa.

Pub. Date : 1993 Oct

PMID : 8225311






2 Functional Relationships(s)
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1 Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa. Arginine sphingomyelin phosphodiesterase 1 Homo sapiens
2 Our results indicate that deletion of arginine 608 in the acid sphingomyelinase gene is the highly prevalent mutation underlying Niemann-Pick type B disease in the population of Maghreb. Arginine sphingomyelin phosphodiesterase 1 Homo sapiens