Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese-Reference-Cited by-同舟云学术

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese

Published:2003-09-24 Issue:12 Volume:11 Page:916-922
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Tsukamoto Koji,Suzuki Hiroaki,Harada Daisuke,Namba Atsushi,Abe Satoko,Usami Shin-ichi

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201073.pdf

Reference32 articles.

1. Pendred V : Deaf mutism and goitre. Lancet 2 1896; 532.

2. Fraser GR : Association of congenital deafness with goitre (Pendred's syndrome): a study of 207 families. Ann Hum Genet 1965; 28: 411–422.

3. Reardon W, Coffey R, Phelps PD et al: Pendred syndrome: 100 years of underascertainment? Q J Med 1997; 90: 443–447.

4. Everett LA, Glaser B, Beck JC et al: Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997; 17: 411–422.

5. Usami S, Abe S, Weston MD et al: Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet 1999; 104: 188–192.

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