Literature DB >> 11432967

Genetic analysis of the connexin-26 M34T variant.

A J Griffith.   

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Year:  2001        PMID： 11432967      PMCID： PMC1757191          DOI： 10.1136/jmg.38.7.e24

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  4 in total

1.  Significance of heterozygosis M34T mutation of GJB2 gene in non-syndromic congenital deafness. Retrospective analysis of 12,472 samples of amniotic fluid.

Authors:  Manuela Coco; Fabrizio Salvinelli; Fabio Greco; Maurizio Trivelli; Laura D'Emidio; Alvaro Mesoraca; Claudio Giorlandino; Raffaella Raffio; Claudio Coco
Journal:  J Prenat Med       Date:  2013-10

2.  Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study.

Authors:  Amanda Hall; Marcus Pembrey; Mark Lutman; Colin Steer; Maria Bitner-Glindzicz
Journal:  BMJ Open       Date:  2012-07-31       Impact factor: 2.692

3.  EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.

Authors:  Lies H Hoefsloot; Anne-Françoise Roux; Maria Bitner-Glindzicz
Journal:  Eur J Hum Genet       Date:  2013-05-22       Impact factor: 4.246

4.  Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population.

Authors:  Felippe Felix; Marcia Gonçalves Ribeiro; Shiro Tomita; Mariano Gustavo Zalis
Journal:  Braz J Otorhinolaryngol       Date:  2017-11-21
  4 in total

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