Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing

Human MYO15A is located on chromosome 17p11.2, has 66 exons and encodes unconventional myosin XVA. Recessive mutations of MYO15A are associated with profound, nonsyndromic hearing loss DFNB3 in humans, and deafness and circling behavior in shaker 2 mice. In the inner ear, this motor protein is neces...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Human mutation 2007-10, Vol.28 (10), p.1014-1019
Hauptverfasser:	Nal, Nevra, Ahmed, Zubair M, Erkal, Engin, Alper, Özgül M, Lüleci, Güven, Dinç, Oktay, Waryah, Ali Muhammad, Ain, Quratul, Tasneem, Saba, Husnain, Tayyab, Chattaraj, Parna, Riazuddin, Saima, Boger, Erich, Ghosh, Manju, Kabra, Madhulika, Riazuddin, Sheikh, Morell, Robert J, Friedman, Thomas B
Format:	Artikel
Sprache:	eng
Schlagworte:	Alternative Splicing Amino acids Biology Chromosomes, Human, Pair 17 Communication Deafness - genetics DFNB3 DNA Mutational Analysis Exons Family Health Female Genetic Linkage genotype–phenotype Hearing Hearing loss Hearing protection hereditary deafness Humans Language disorders Localization Male Models, Genetic Mutation MYO15A myosin Myosins - genetics Myosins - physiology Pedigree Protein Isoforms Proteins Signal transduction
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!