๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Clinical and biochemical analysis of two families with type I and type II mannosidosis

โœ Scribed by Bennet, J. K. ;Dembure, P. P. ;Elsas, L. J.


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
609 KB
Volume
55
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


USH2A Mutation analysis in 70 Dutch fami
โœ Ronald J.E. Pennings; Heleen te Brinke; Michael D. Weston; Annemarie Claassen; D ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 53 KB ๐Ÿ‘ 1 views

Usher syndrome type II (USH2) is characterised by moderate to severe high-frequency hearing impairment, progressive visual loss due to retinitis pigmentosa and intact vestibular responses. Three loci are known for USH2, however, only the gene for USH2a (USH2A) has been identified. Mutation analysis