Pendred syndrome and DFNB4-mutation screening ofSLC26A4by denaturing high-performance liquid chromatography and the identification of eleven novel mutations-Reference-Cited by-同舟云学术

Pendred syndrome and DFNB4-mutation screening ofSLC26A4by denaturing high-performance liquid chromatography and the identification of eleven novel mutations

Published:2003-06-18 Issue:1 Volume:124A Page:1-9
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Prasad Sai,Kölln Karen A.,Cucci Robert A.,Trembath Richard C.,Camp Guy Van,Smith Richard J.H.

Funder

The National Institutes of Health (RJHS)

The National Lottery (UK; RCT)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference21 articles.

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2. Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre);Coyle;Hum Mol Genet,1998

3. A comparison of fluorescent SSCP and denaturing HPLC for high throughput mutations screning;Ellis;Hum Mutat,2000

4. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS);Everett;Nat Genet,1997

5. Association of congenital deafness with goiter (Pendred's syndrome): A study of 207 families;Fraser;Ann Hum Genet,1965

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