A point mutation of the ED1 gene in a Japanese family with X-linked hypohidrotic ectodermal dysplasia
Author:
Publisher
Wiley
Subject
General Dentistry
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-263X.2005.00573.x/fullpdf
Reference10 articles.
1. 1 VA McKusick . Mendelian Inheritance in Man , 12th edn . Baltimore, MD: Johns Hopkins University Press, 1998 : 3307 -3309 .
2. X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
3. Identification of a New Splice Form of the EDA1 Gene Permits Detection of Nearly All X-Linked Hypohidrotic Ectodermal Dysplasia Mutations
4. The Anhidrotic Ectodermal Dysplasia Gene (EDA) Undergoes Alternative Splicing and Encodes Ectodysplasin-A with Deletion Mutations in Collagenous Repeats
5. The gene for X-linked anhidrotic ectodermal dysplasia encodes a TNF-like domain
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1. No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia;Orphanet Journal of Rare Diseases;2021-02-23
2. A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia;Cellular & Molecular Biology Letters;2019-08-19
3. Nasal Crust in a Case of Hypohidrotic Ectodermal Dysplasia;Practica Oto-Rhino-Laryngologica;2017
4. Missense mutation of EDA1 gene in Japanese family with X-linked anhidrotic ectodermal dysplasia;Pediatric Dental Journal;2012
5. Missense mutation of the EDA gene in a Jordanian family with X-linked hypohidrotic ectodermal dysplasia: phenotypic appearance and speech problems;Genetics and Molecular Research;2010
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