Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions-Reference-Cited by-同舟云学术

Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions

Published:2017-04-13 Issue:8 Volume:62 Page:789-795
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Bliznetz Elena A,Lalayants Maria R,Markova Tatiana G,Balanovsky Oleg P,Balanovska Elena V,Skhalyakho Roza A,Pocheshkhova Elvira A,Nikitina Natalya V,Voronin Sergey V,Kudryashova Elena K,Glotov Oleg S,Polyakov Alexander V

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/jhg201742.pdf

Reference33 articles.

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2. del Castillo, I., Villamar, M., Moreno-Pelayo, M. A., del Castillo, F. J., Alvarez, A., Telleria, D. et al. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N. Engl. J. Med. 346, 243–249 (2002).

3. Lerer, I., Sagi, M., Ben-Neriah, Z., Wang, T., Levi, H. & Abeliovich, D. A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: a novel founder mutation in Ashkenazi Jews. Hum. Mutat. 18, 460 (2001).

4. Pallares-Ruiz, N., Blanchet, P., Mondain, M., Claustres, M. & Roux, A. F. A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? Eur. J. Hum. Genet. 10, 72–76 (2002).

5. Del Castillo, I., Moreno-Pelayo, M. A., Del Castillo, F. J., Brownstein, Z., Marlin, S., Adina, Q. et al. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am. J. Hum. Genet. 73, 1452–1458 (2003).

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