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Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation

✍ Scribed by Tero Ylisaukko-oja; Karola Rehnström; Raija Vanhala; Carola Tengström; Jaana Lähdetie; Irma Järvelä


Publisher
Springer
Year
2004
Tongue
English
Weight
188 KB
Volume
114
Category
Article
ISSN
0340-6717

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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