Τετάρτη 1 Νοεμβρίου 2017

A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss

X-linked nonsyndromic hearing impairment is the rarest form of genetic hearing loss and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked nonsyndromic sensorineural hearing loss in a three-generation American family.

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