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Mechanism of Two Novel Human GJC3 Missense Mutations in Causing Non-Syndromic Hearing Loss

โœ Scribed by Su, Ching-Chyuan; Li, Shuan-Yow; Yen, Yung-Chang; Nian, Jhih-Hao; Liang, Wei-Guang; Yang, Jiann-Jou


Book ID
120085628
Publisher
Springer-Verlag
Year
2012
Tongue
English
Weight
719 KB
Volume
66
Category
Article
ISSN
1085-9195

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Novel missense mutations of TMPRSS3 in t
โœ Saber Masmoudi; Stylianos E. Antonarakis; Torsten Schwede; Abdel Monem Ghorbel; ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 575 KB

Recently the TMPRSS3 gene, which encodes a transmembrane serine protease, was found to be responsible for two non-syndromic recessive deafness loci located on human chromosome 21q22.3, DFNB8 and DFNB10. We found evidence for linkage to the DFNB8/10 locus in two unrelated consanguineous Tunisian fami