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Metachromatic leukodystrophy: A novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation
Author(s) -
Gort Laura,
Coll M. Josep,
Chabás Amparo
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(200010)16:4<375::aid-humu21>3.0.co;2-c
Subject(s) - metachromatic leukodystrophy , mutation , haplotype , microbiology and biotechnology , genetics , medicine , biology , genotype , gene , psychiatry