The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case
Clin Genet
.
2010 Mar;77(3):302-3.
doi: 10.1111/j.1399-0004.2009.01319.x.
Authors
A D Funke
,
M Esser
,
A Krüttgen
,
J Weis
,
M Mitne-Neto
,
M Lazar
,
A L Nishimura
,
A D Sperfeld
,
P Trillenberg
,
J Senderek
,
M Krasnianski
,
M Zatz
,
S Zierz
,
M Deschauer
PMID:
20447143
PMCID:
PMC2847198
DOI:
10.1111/j.1399-0004.2009.01319.x
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Female
Humans
Male
Muscle Weakness / genetics*
Pedigree
Point Mutation*
Vesicular Transport Proteins / genetics*
Substances
VAPB protein, human
Vesicular Transport Proteins