Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts
Identifieur interne : 00A693 ( Main/Exploration ); précédent : 00A692; suivant : 00A694Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts
Auteurs : Toshiyuki Yamamoto ; Haruaki Ninomiya ; Michika Matsumoto ; Yasutoshi Ohta ; Eiji Nanba ; Yukie Tsutsumi ; Kazuhiro Yamakawa ; Gilles Millat ; Marie T. Vanier ; Peter G. Pentchev ; Kousaku OhnoSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 2000-09-01.
Url:
DOI: 10.1136/jmg.37.9.707
Affiliations:
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