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Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype–Phenotype Correlation
Author(s) -
Chen YiChen,
Chien YinHsiu,
Chen PinWen,
LeungSang Tang Nelson,
Chiu PaoChin,
Hwu WuhLiang,
Lee NiChung
Publication year - 2013
Publication title -
human mutation
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22286
Subject(s) - asymptomatic , genotype , missense mutation , carnitine , newborn screening , pediatrics , etiology , population , genotype phenotype distinction , medicine , mutation , gastroenterology , biology , genetics , gene , environmental health
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