Mutations in the transmembrane channel-like gene 1 (TMC1) cause prelingual autosomal recessive (DFNB7/11) and postlingual progressive autosomal dominant (DFNA36) nonsyndromic hearing loss. To determine the genetic causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) in the northeast and
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations
✍ Scribed by Aslı Sırmacı; Duygu Duman; Hatice Öztürkmen-Akay; Seyra Erbek; Armağan İncesulu; Burcu Öztürk-Hişmi; Z. Serap Arıcı; E. Berrin Yüksel-Konuk; Seda Taşır-Yılmaz; Suna Tokgöz-Yılmaz; Filiz Başak Cengiz; İdil Aslan; Müzeyyen Yıldırım; Aylin Hasanefendioğlu-Bayrak; Abdullah Ayçiçek; İsmail Yılmaz; Suat Fitoz; Fazilet Altın; Hilal Özdağ; Mustafa Tekin
- Book ID
- 116565164
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 436 KB
- Volume
- 73
- Category
- Article
- ISSN
- 0165-5876
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Mutations in the Cx26 gene have been shown to cause autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB1 locus on chromosome 13q12. Using direct sequencing, we screened the Cx26 coding region of affected and nonaffected members from seven ARNSHL families either linked to the DFNB1 loc