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Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region

✍ Scribed by Van Hauwe, Peter ;Coucke, Paul J. ;Ensink, Robbert J. ;Huygen, Patrick ;Cremers, Cor W.R.J. ;Van Camp, Guy

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 585 KB
Volume: 93
Category: Article
ISSN: 0148-7299
DOI: 10.1002/1096-8628(20000731)93:3<184::aid-ajmg4>3.0.co;2-5

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A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment

✍ Guy Van Camp; Paul J. Coucke; Jiro Akita; Erik Fransen; Satoko Abe; Els M.R. De 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 135 KB

Several different mutations in the KCNQ4 K+ channel gene are responsible for autosomal dominant nonsyndromic hearing impairment (DFNA2). Here we describe two additional families originating from Europe and Japan with a KCNQ4 missense mutation (W276S) that was previously found in one European family.