A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis
about
Defining the pathogenic involvement of desmoglein 4 in pemphigus and staphylococcal scalded skin syndromeA homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesiclesDesmosomes: just cell adhesion or is there more?Desmosomal genodermatoses.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.Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2.A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3.
P2860
Q24561623-0D75B3AA-C0D4-461C-AA22-4CB1E5473337Q24657947-6B02903A-8D9B-46B5-97AE-2C96DEF04642Q37079379-7825C908-5371-4E46-99FC-1A505B417604Q37935047-57892825-E880-4FD8-A301-4D4E15CA7759Q38285372-376A6EC8-AB98-4295-A1E1-A4AFC4632BF1Q38591830-A8BEF00E-59D4-4497-BD81-2790D21D0BBAQ51904570-47C4C8EC-9D09-4319-8611-CD2D6C87CD75Q51967584-F3D93FD4-D82E-4968-B3D5-A09B2BE1521E
P2860
A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis
description
2004 nî lūn-bûn
@nan
2004 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
A recurrent intragenic deletio ...... osomal recessive hypotrichosis
@ast
A recurrent intragenic deletio ...... osomal recessive hypotrichosis
@en
A recurrent intragenic deletio ...... osomal recessive hypotrichosis
@nl
type
label
A recurrent intragenic deletio ...... osomal recessive hypotrichosis
@ast
A recurrent intragenic deletio ...... osomal recessive hypotrichosis
@en
A recurrent intragenic deletio ...... osomal recessive hypotrichosis
@nl
prefLabel
A recurrent intragenic deletio ...... osomal recessive hypotrichosis
@ast
A recurrent intragenic deletio ...... osomal recessive hypotrichosis
@en
A recurrent intragenic deletio ...... osomal recessive hypotrichosis
@nl
P2093
P2860
P1476
A recurrent intragenic deletio ...... osomal recessive hypotrichosis
@en
P2093
Muhammad Arshad Rafiq
Muhammad Faiyaz-ul-Haque
Saqib Mahmood
Sayedul Haque
Suzanne M Leal
Wasim Ahmad
P2860
P304
P356
10.1111/J.0022-202X.2004.22715.X
P407
P577
2004-07-01T00:00:00Z
P6179
1043812010