Genetic heterogeneity of Usher syndrome type II.

doi:10.1136/jmg.30.10.843

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Article

Genetic heterogeneity of Usher syndrome type II.

Journal of medical genetics - 1 Oct 1993

Pieke Dahl S, Kimberling W J, Gorin M B, Weston M D, Furman J M, Pikus A, Möller C

Abstract excerpt

Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing loss. A gene for Usher syndrome type II (USH2) has been localised to chromosome 1q32-q41. DNA from a family with four of seven sibs affected with clinical characteristics o...

Topics

Adolescent
Adult
Chromosomes, Human, Pair 1
Female
Genetic Linkage
Genetic Variation
Genotype
Haplotypes
Hearing Loss, Sensorineural
Humans
Male
Pedigree
Phenotype
Polymorphism, Restriction Fragment Length
Retinitis Pigmentosa
Syndrome

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