Open AccessA novel ABCD1 gene mutation in a patient with X-linked adrenoleukodystrophy with atypically normal plasma levels of very long chain fatty acids
Author(s) -
Tanyel Zübarioğlu,
Ertuğrul Kıykım,
Mehmet Şerif Cansever,
Çiğdem Aktuğlu-Zeybek
Publication year - 2016
Publication title -
marmara üniversitesi tıp fakültesi dergisi
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.112
H-Index - 11
ISSN - 1309-9469
DOI - 10.5472/mmjcr.2901.08
Subject(s) - adrenoleukodystrophy , medicine , endocrinology , mutation , gene , hasta , genetics , gynecology , biology , peroxisome , receptor