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-Reference-Cited by-同舟云学术

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

Published:1999-11 Issue:5 Volume:65 Page:1321-1329
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference24 articles.

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2. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis;Carstea;Science,1997

3. Niemann-Pick disease type C: skin biopsies in parents;Ceuterick;Neuropediatrics,1986

4. An adult with a non-neuronopathic form of Niemann-Pick C disease;Fensom;J Inher Metab Dis,1999

5. The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097→T transversion in NPC1;Greer;Am J Hum Genet,1998

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