Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.
作者信息
Amorosi Cyntia Anabel, Treslova Helena, Dodelson de Kremer Raquel, Coll María José, Dvoráková Lenka, Oller Ramírez Ana María
机构信息
Center for Study of Inborn Errors of Metabolism, CEMECO, Pediatric Clinical Department, Children's Hospital and National University of Cordoba, Córdoba, Argentinia.
出版信息
Hum Genet. 2010 Apr;127(4):486-7.
PMID:21488264
Abstract
摘要
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