DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.
about
Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Recent advances in the genetic neuropathies.How lipid droplets "TAG" along: Glycerolipid synthetic enzymes and lipid storage.The functional genomics laboratory: functional validation of genetic variants.Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3' UTR in NEFH.Intestinal failure and aberrant lipid metabolism in patients with DGAT1 deficiency.
P2860
Q38644080-FD0A1821-3613-44FC-83A5-69D4C54E8B99Q38655437-8113A886-4253-4527-AA3A-29767B4F3280Q38943757-E974612E-47E6-4EE8-AC06-5E7BDE262ABEQ39392563-C184204B-A5B6-4E50-B52F-8A584A527687Q49991801-6A426FAE-BC61-417E-A123-091097E6FAA5Q50980005-5A5B1BB9-3C33-4126-8F65-8496537277A2Q52431188-75E7CE26-8E2F-4476-9D4C-4A481215AB98
P2860
DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
DGAT2 Mutation in a Family wit ...... l Charcot-Marie-Tooth Disease.
@en
type
label
DGAT2 Mutation in a Family wit ...... l Charcot-Marie-Tooth Disease.
@en
prefLabel
DGAT2 Mutation in a Family wit ...... l Charcot-Marie-Tooth Disease.
@en
P2093
P2860
P356
P1433
P1476
DGAT2 Mutation in a Family wit ...... l Charcot-Marie-Tooth Disease.
@en
P2093
Byung-Ok Choi
Heasoo Koo
Hyun Dae Hong
Ji Eun Lee
Ji Hyun Kim
Junghee Kang
Ki Wha Chung
Soo Hyun Nam
P2860
P304
P356
10.1002/HUMU.22959
P577
2016-01-20T00:00:00Z