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Use of isolated inbred human populations for identification of disease genes

✍ Scribed by Val C Sheffield; Edwin M Stone; Rivka Carmi

Book ID
118569294
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
607 KB
Volume
14
Category
Article
ISSN
0168-9525

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We have previously reported significant linkage between markers on 11q13.5 and Usher syndrome type 1 (USH1B) in a large Samaritan kindred. USH1B is an autosomal recessive disease characterized by profound congenital sensorineural deafness, vestibular dysfunction and progressive visual loss. A unique