Screening of EDA1 Gene in X-Linked Anhidrotic Ectodermal Dysplasia Using DHPLC: Identification of 14 Novel Mutations in Italian Patients-Reference-Cited by-同舟云学术

Screening of EDA1 Gene in X-Linked Anhidrotic Ectodermal Dysplasia Using DHPLC: Identification of 14 Novel Mutations in Italian Patients

Published:2008-09 Issue:3 Volume:12 Page:437-442
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

Conte Chiara¹,Gambardella Stefano²,Bulli Cristina¹,Rinaldi Fabrizio²,Di Marino Daniele³,Falconi Mattia³,Bramanti Placido⁴,Desideri Alessandro³,Novelli Giuseppe¹²

Affiliation:

1. Azienda Ospedaliera Universitaria Policlinico di Tor Vergata, Rome, Italy.

2. Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Rome, Italy.

3. Department of Biology and Center of Biostatistics and Bioinformatics, University of Rome “Tor Vergata,” Via della Ricerca Scientifica, Rome, Italy.

4. IRCCS Centro Neurolesi “Bonino Pulejo,” Messina, Italy.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/gte.2008.0020

Reference23 articles.

1. Electrostatics of nanosystems: Application to microtubules and the ribosome

2. The Anhidrotic Ectodermal Dysplasia Gene (EDA) Undergoes Alternative Splicing and Encodes Ectodysplasin-A with Deletion Mutations in Collagenous Repeats

3. Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia

4. The gene for X-linked anhidrotic ectodermal dysplasia encodes a TNF-like domain

5. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

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3. Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients;Genes;2016-09-19

4. Estudio clínico y molecular en un escolar con displasia ectodérmica hipohidrótica ligada al X;Archivos Argentinos de Pediatria;2015-12-01

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