Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B.
about
Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin IchthyosisAdult-onset acral peeling skin syndrome in a non-identical twin: a case report in South AfricaEpidermal barrier disorders and corneodesmosome defects.Inherited desmosomal disorders.Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases.Inflammatory peeling skin syndrome caused by homozygous genomic deletion in thePSORS1region encompassing theCDSNgene
P2860
Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh
2013年學術文章
@zh-hant
name
Identification of the first no ...... peeling skin syndrome type B.
@en
Identification of the first no ...... peeling skin syndrome type B.
@nl
type
label
Identification of the first no ...... peeling skin syndrome type B.
@en
Identification of the first no ...... peeling skin syndrome type B.
@nl
prefLabel
Identification of the first no ...... peeling skin syndrome type B.
@en
Identification of the first no ...... peeling skin syndrome type B.
@nl
P2093
P2860
P356
P1476
Identification of the first no ...... peeling skin syndrome type B.
@en
P2093
J Mazereeuw-Hautier
M Kypriotou
P2860
P304
P356
10.1111/BJD.12593
P407
P577
2013-12-01T00:00:00Z