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Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G > A mutation and a complete deletion of the ARSA gene
Author(s) -
Eng Barry,
Heshka Tim,
Tarnopolsky Mark A.,
Nakamura Lisa M.,
Nowaczyk Małgorzata J.M.,
Waye John S.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30085
Subject(s) - metachromatic leukodystrophy , compound heterozygosity , medical genetics , medicine , genetics , mutation , biology , pathology , gene
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