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A de novo adrenoleukodystrophy gene (ABCD1) mutation S636I without detectable ABCD1 protein and a R104C mutation with normal amounts of protein from an Austrian patient collective
Author(s) -
Berger Johannes,
Korosec Thomas,
Unterrainer Gertraud,
Molzer Brunhilde
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/1098-1004(200012)16:6<534::aid-humu25>3.0.co;2-u
Subject(s) - adrenoleukodystrophy , mutation , citation , library science , genetics , biology , gene , peroxisome , computer science