Niemann-Pick C1 Disease: The I1061T Substitution Is a Frequent Mutant Allele in Patients of Western European Descent and Correlates with a Classic Juvenile Phenotype


Gilles Millat,Christophe Marçais,Mohammad A. Rafi,Toshiyuki Yamamoto,Jill A. Morris,Peter G. Pentchev,Kousaku Ohno,David A. Wenger,Marie T. Vanier


The American Journal of Human Genetics




November 1999

Copyright © 1999, Elsevier

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