Inflammatory peeling skin syndrome caused a novel mutation in CDSN.
about
Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.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.The atopic march: current insights into skin barrier dysfunction and epithelial cell-derived cytokines.Immunoglobulin A nephropathy in association with generalized inflammatory peeling skin syndrome.A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN.Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B.Alu-mediated large deletion of the CDSN gene as a cause of peeling skin disease.Inflammatory peeling skin syndrome caused by homozygous genomic deletion in thePSORS1region encompassing theCDSNgene
P2860
Q35184608-B1C43757-9E2E-4458-8896-CFE87DA1CA20Q38285372-1FF030FC-AE6F-4EBE-AE29-4809ED24E767Q38591830-5265EF16-3BB4-4952-B155-ACA6BA94BF20Q38704374-EDB42C77-5FF2-47FB-883A-9763E4E36692Q41750586-F522B660-988B-4421-81D5-C947BF215D91Q42607143-384A9919-B173-4968-8486-362B8FCCC9A9Q44226562-A89624D0-ECBC-46CA-AC92-34499F885271Q46060908-F23B7CFC-B994-4776-A516-766739489601Q57757799-1211CBC3-D686-4620-A366-FF2AB2990AB3
P2860
Inflammatory peeling skin syndrome caused a novel mutation in CDSN.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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name
Inflammatory peeling skin syndrome caused a novel mutation in CDSN.
@en
Inflammatory peeling skin syndrome caused a novel mutation in CDSN.
@nl
type
label
Inflammatory peeling skin syndrome caused a novel mutation in CDSN.
@en
Inflammatory peeling skin syndrome caused a novel mutation in CDSN.
@nl
prefLabel
Inflammatory peeling skin syndrome caused a novel mutation in CDSN.
@en
Inflammatory peeling skin syndrome caused a novel mutation in CDSN.
@nl
P2093
P2860
P1476
Inflammatory peeling skin syndrome caused a novel mutation in CDSN.
@en
P2093
Dana Fuchs Telem
Eli Sprecher
Ofer Sarig
Shirli Israeli
P2860
P2888
P304
P356
10.1007/S00403-011-1195-Z
P577
2011-12-07T00:00:00Z