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35delG mutations were determined in the GJB2 gene in subjects who had hearing loss in four families, and heterozygous c.
In China, previous epidemiological data showed that GJB2, SLC26A4, and mitochondrial 12SrRNA are the three most common deafness genes and account for 40% of the patients with hereditary hearing loss (Ouyang et al.
No mutations in connexin genes GJB2, GJB6 or GJA1 among Cameroonians and Xhosa South Africans
Mutacoes no GJB2 ocorrem em grande frequencia nesta etnia [18,19].
De los 4 individuos heterocigotos, en uno de ellos se completo su genotipo, ya que era heterocigoto para la mutacion M34T en el gen GJB2.
Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families.
A total of 15% had congenital CMV infection and 24% had GJB2 mutations.
Screening for GJB2 mutations should be considered in all nonsyndromic HL cases with an unknown etiology.
San Diego, CA) signed a license agreement with Institut Pasteur (Paris, France) that grants Nanogen exclusive rights in Europe to certain patents and patent applications relating to detection of mutations in the GJB2 gene for the diagnosis of hereditary deafness.
This study identified two disease-causing genes TJP2 and GJB2 in a Chinese family with unconditional ADNSHHI.
EMQN,(38) 2012 Disease-specific schemes: Y-chromosome microdeletions, BRCA1 and BRCA2, CAH, CMT, Familial Adenomatous Polyposis Colon Cancer, GJB2 and GJB6, HNPCC, monogenic diabetes, Marfan syndrome, porphyria, hereditary recurrent fevers, myotonic dystrophy, Duchenne muscular dystrophy, fragile X syndrome, Friedreich ataxia, Huntington disease, hemochromatosis, multiple endocrine neoplasia type 2A, PKU, Prader-Willi/Angelman syndromes, retinoblastoma, short stature homeobox gene testing, spinocerebellar ataxia, spinal muscular atrophy, Von Hippel Lindau disease, Wilson disease.
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
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- Gjalski, Ksavjer Šandor
- Gjalski, Ksavjer Sandor