Lack of collagen [alpha]6

Congenital hearing loss affects 1 in every 1000 births, with genetic mutations contributing to more than 50% of all cases. X-linked nonsyndromic hereditary hearing loss is associated with six loci (DFNX1-6) and five genes. Recently, the missense mutation (c.1771G>A, p.Gly591Ser) in COL4A6, encodi...

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Veröffentlicht in:	PloS one 2021-04, Vol.16 (4), p.e0249909
Hauptverfasser:	Tang, Shaoying, Yonezawa, Tomoko, Maeda, Yukihide, Ono, Mitsuaki, Maeba, Takahiro, Miyoshi, Toru, Momota, Ryusuke, Tomono, Yasuko, Oohashi, Toshitaka
Format:	Artikel
Sprache:	eng
Schlagworte:	Causes of Cochlea Collagen Gene mutations Genetic aspects Genetic disorders Genetic research Health aspects Hearing loss Physiological aspects
Online-Zugang:	Volltext
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