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The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case
Author(s) -
Funke AD,
Esser M,
Krüttgen A,
Weis J,
MitneNeto M,
Lazar M,
Nishimura AL,
Sperfeld AD,
Trillenberg P,
Senderek J,
Krasnianski M,
Zatz M,
Zierz S,
Deschauer M
Publication year - 2010
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2009.01319.x
Subject(s) - weakness , missense mutation , founder effect , family history , haplotype , progressive muscular atrophy , genetics , amyotrophic lateral sclerosis , medicine , mutation , pediatrics , biology , gene , disease , anatomy , pathology , allele