Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.
about
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid PolyneuropathyClinical implications of genetic advances in Charcot-Marie-Tooth disease.Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia.
P2860
Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 29 March 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Re-analysis of an original CMT ...... tifies a known BSCL2 mutation.
@en
Re-analysis of an original CMT ...... tifies a known BSCL2 mutation.
@nl
type
label
Re-analysis of an original CMT ...... tifies a known BSCL2 mutation.
@en
Re-analysis of an original CMT ...... tifies a known BSCL2 mutation.
@nl
prefLabel
Re-analysis of an original CMT ...... tifies a known BSCL2 mutation.
@en
Re-analysis of an original CMT ...... tifies a known BSCL2 mutation.
@nl
P2093
P2860
P356
P1433
P1476
Re-analysis of an original CMT ...... tifies a known BSCL2 mutation.
@en
P2093
Aditi Kidambi
Garth Nicholson
Marina Kennerson
Megan Hwa Brewer
Rabia Chaudhry
P2860
P304
P356
10.1002/MUS.23743
P577
2013-03-29T00:00:00Z