Open AccessA (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family
Author(s) -
Erik A. Sistermans,
Ilse J. de Wijs,
I.F.M. de Coo,
L. M. E. Smit,
Fred H. Menko,
Bernard A. van Oost
Publication year - 1996
Publication title -
human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.351
H-Index - 137
eISSN - 1432-1203
pISSN - 0340-6717
DOI - 10.1007/s004390050046
Subject(s) - proteolipid protein 1 , biology , mutation , genetics , gene , myelin proteolipid protein , endoplasmic reticulum , phenotype , microbiology and biotechnology , myelin , central nervous system , myelin basic protein , neuroscience
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