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Exclusion of Usher syndrome gene from much of chromosome 4
Journal article   Peer reviewed

Exclusion of Usher syndrome gene from much of chromosome 4

R.J.H Smith, J.D Holcomb, S.P Daiger, C.T Caskey, M.Z Pelias, B.R Alford, D.D Fontenot and J.F Hejtmancik
Cytogenetic and genome research, Vol.50(2-3), pp.102-106
1989
DOI: 10.1159/000132733
PMID: 2776474

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Abstract

Usher syndrome is an autosomal recessive disease characterized by dual sensory impairments; affected individuals are born with a sensorineural hearing loss and ultimately lose their sight as retinitis pigmentosa develops. Conventional protein markers previously tested in a Louisiana Acadian kindred suggested tentative linkage to vitamin D-binding protein on chromosome 4. DNA linkage studies do not confirm this linkage relationship and exclude much of chromosome 4 as the site of the Usher syndrome gene in these families.
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