𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population

✍ Scribed by Xiao Mei Ouyang; Denise Yan; Li Lin Du; J. Fielding. Hejtmancik; Samuel G. Jacobson; Walter E. Nance; An Ren Li; Simon Angeli; Muriel Kaiser; Valerie Newton; Steve D. M. Brown; Thomas Balkany; Xue Zhong Liu


Publisher
Springer
Year
2005
Tongue
English
Weight
233 KB
Volume
116
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Mutation profile of the MYO7A gene in Sp
✍ T. Jaijo; E. Aller; S. Oltra; M. Beneyto; C. NΓ‘jera; C. Ayuso; M. Baiget; M. Car πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 178 KB πŸ‘ 1 views

Usher syndrome type I is the most severe form of Usher syndrome. It is an autosomal recessive disorder characterized by profound congenital sensorineural deafness, retinitis pigmentosa, and vestibular abnormalities. Mutations in the myosin VIIA gene (MYO7A) are responsible for Usher syndrome type 1B

Mutation profile of the CDH23 gene in 56
✍ A. Oshima; T. Jaijo; E. Aller; J.M. Millan; C. Carney; S. Usami; C. Moller; W.J. πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 72 KB πŸ‘ 1 views

Mutations in the human gene encoding cadherin23 (CDH23) cause Usher syndrome type 1D (USH1D) and nonsyndromic hearing loss. Individuals with Usher syndrome type I have profound congenital deafness, vestibular areflexia and usually begin to exhibit signs of RP in early adolescence. In the present stu

Spectrum of USH2A mutations in Scandinav
✍ Bo Dreyer; Vigdis Brox; Lisbeth TranebjΓ¦rg; Thomas Rosenberg; AndrΓ¨ M. Sadeghi; πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 119 KB πŸ‘ 1 views

## Communicated by Andreas Gal Usher syndrome type II (USH2) is an autosomal recessive disorder, characterised by moderate to severe high-frequency hearing impairment, normal balance function and progressive visual impairment due to retinitis pigmentosa. Usher syndrome type IIa, the most common su

Twelve novel myosin VIIA mutations in 34
✍ Andreas R. Janecke; Moritz Meins; Mojy Sadeghi; Kathrin Grundmann; Eckart Apfels πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 355 KB πŸ‘ 1 views

Usher syndrome is a heterogeneous autosomal recessive trait and the most common cause of hereditary deaf-blindness. Usher syndrome type I (USH1) is characterised by profound congenital sensorineural hearing loss, vestibular dysfunction, and prepubertal onset of retinitis pigmentosa. Of the at least