A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance
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9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotypingA LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease.A novel missense mutation of CMT2P alters transcription machinery.Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.MicroRNA-939 inhibits cell proliferation via targeting LRSAM1 in Hirschsprung's disease.LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.
P2860
Q30355110-FA49E901-FE78-49E9-976B-663D85E58025Q36565235-A3BDA696-9556-4DA0-8A0B-BE8396626818Q38746997-86116B49-1DB3-4241-BD62-11FB30AB8B43Q40295448-7D8F4465-C789-4D21-89F5-667C1A65D9CCQ49186738-5A3EA277-3649-4D73-908A-72D3B8B3210EQ51089421-726364C3-AA9B-430A-919D-A6E5A7342CB8Q51448139-05097027-9FBE-482C-B3F1-CF422497CC21
P2860
A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
A novel mutation in LRSAM1 cau ...... ease with dominant inheritance
@ast
A novel mutation in LRSAM1 cau ...... ease with dominant inheritance
@en
type
label
A novel mutation in LRSAM1 cau ...... ease with dominant inheritance
@ast
A novel mutation in LRSAM1 cau ...... ease with dominant inheritance
@en
prefLabel
A novel mutation in LRSAM1 cau ...... ease with dominant inheritance
@ast
A novel mutation in LRSAM1 cau ...... ease with dominant inheritance
@en
P2093
P2860
P356
P1433
P1476
A novel mutation in LRSAM1 cau ...... ease with dominant inheritance
@en
P2093
Caroline Schell
David C Schöndorf
Julia Sekler
Maik Engeholm
Saskia Biskup
Vineet Arora
P2860
P2888
P356
10.1186/1471-2377-14-118
P577
2014-06-03T00:00:00Z
P5875
P6179
1020747241