Erratum: Analysis of DNA elements that modulate myosin VIIa expression in humans

Usher syndrome�Ib (USH1B), an autosomal recessive disorder caused by mutations in myosin VIIa (MYO7A), is characterized by congenital profound hearing loss, vestibular abnormalities and retinitis pigmentosa. Promoter elements in the 5 kb upstream of the translation start were identified using adult...

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Veröffentlicht in:	Human mutation 2000-01, Vol.15 (1), p.114-115
Hauptverfasser:	Orten, D.J., Weston, M.D., Kelley, P.M., Cremers, C.W., Wagenaar, M., Jacobson, S.G., Kimberling, W.J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Substitution Cell Line Dyneins Gene Expression Regulation Hearing Loss, Sensorineural - genetics Hearing Loss, Sensorineural - metabolism HeLa Cells Humans Linkage Disequilibrium mutation detection Mutation, Missense MYO7A myosin VIIa Myosins - biosynthesis Myosins - genetics Pedigree Pigment Epithelium of Eye - metabolism Polymerase Chain Reaction Polymorphism, Restriction Fragment Length promoter Promoter Regions, Genetic retinal pigment epithelium Retinitis Pigmentosa - genetics Retinitis Pigmentosa - metabolism Syndrome USH1B Usher syndrome Vestibular Diseases - genetics Vestibular Diseases - metabolism
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