Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease.
about
The role of the ATP2C1 gene in Hailey-Hailey disease.Novel mutations in Darier disease and association to self-reported disease severity.A Darier disease mutation relieves kinetic constraints imposed by the tail of sarco(endo)plasmic reticulum Ca2+-ATPase 2b.Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease.
P2860
Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey 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
Mendelian Disorders of Cornifi ...... ase and Hailey-Hailey Disease.
@en
type
label
Mendelian Disorders of Cornifi ...... ase and Hailey-Hailey Disease.
@en
prefLabel
Mendelian Disorders of Cornifi ...... ase and Hailey-Hailey Disease.
@en
P2093
P2860
P356
P1433
P1476
Mendelian Disorders of Cornifi ...... ease and Hailey-Hailey Disease
@en
P2093
European Professional Contributors
Jorge Frank
Maaike Vreeburg
Michel van Geel
Peter M Steijlen
Ruud G L Nellen
P2860
P304
P356
10.1002/HUMU.23164
P577
2017-02-15T00:00:00Z