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Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction

✍ Scribed by Margit Schraders; Jaap Oostrik; Patrick L.M. Huygen; Tim M. Strom; Erwin van Wijk; Henricus P.M. Kunst; Lies H. Hoefsloot; Cor W.R.J. Cremers; Ronald J.C. Admiraal; Hannie Kremer


Book ID
113422809
Publisher
American Society of Human Genetics
Year
2010
Tongue
English
Weight
657 KB
Volume
86
Category
Article
ISSN
0002-9297

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Identification of mutations in the conne
✍ DA Scott; ML Kraft; R Carmi; A Ramesh; K Elbedour; Y Yairi; C. R. Srikumari Sris πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 223 KB πŸ‘ 2 views

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