RT Journal Article
SR Electronic
T1 Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 707
OP 712
DO 10.1136/jmg.37.9.707
VO 37
IS 9
A1 TOSHIYUKI YAMAMOTO
A1 HARUAKI NINOMIYA
A1 MICHIKA MATSUMOTO
A1 YASUTOSHI OHTA
A1 EIJI NANBA
A1 YUKIE TSUTSUMI
A1 KAZUHIRO YAMAKAWA
A1 GILLES MILLAT
A1 MARIE T VANIER
A1 PETER G PENTCHEV
A1 KOUSAKU OHNO
YR 2000
UL http://jmg.bmj.com/content/37/9/707.abstract
AB