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The R608del mutation in the acid sphingomyelinase gene ( SMPD1 ) is the most prevalent among patients from Gran Canaria Island with Niemann‐Pick disease type B
Author(s) -
M Fernández-Burriel,
L Peña,
J C Ramos,
J C Cabrera,
M Marti,
F Rodríguez-Quiñones,
A Chabás
Publication year - 2003
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2003.00025.x
Subject(s) - acid sphingomyelinase , genetics , mutation , citation , sphingomyelin , gene , disease , medicine , biology , genealogy , history , computer science , world wide web , membrane