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Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss

โœ Scribed by Zhiyuan Li; Ronghua Li; Jianfu Chen; Zhisu Liao; Yi Zhu; Yaping Qian; Sudao Xiong; Selena Heman-Ackah; Jianbo Wu; Daniel I. Choo; Min-Xin Guan


Book ID
106134265
Publisher
Springer
Year
2005
Tongue
English
Weight
285 KB
Volume
117
Category
Article
ISSN
0340-6717

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Pyrosequencing for detection of mutation
โœ Alessandro Ferraris; Eric Rappaport; Rosa Santacroce; Eleanor Pollak; Ian Krantz ๐Ÿ“‚ Article ๐Ÿ“… 2002 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 359 KB

Hereditary hearing loss (HHL) is one of the most common congenital disorders and is highly heterogeneous. Mutations in the connexin 26 (CX26) gene (GJB2) account for about 20% of all cases of childhood deafness, and approach 50% in documented recessive cases of non-syndromic hearing loss. In additio