Article
Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q.
The British journal of ophthalmology - 1 Oct 1998
Reichel M B, Kelsell R E, Fan J, Gregory C Y, Evans K, Moore A T, Hunt D M, Fitzke F W, Bird A C
Abstract excerpt
AIMS: To document the phenotype of an autosomal dominant macular dystrophy diagnosed as having North Carolina macular dystrophy (NCMD) in this British family, and to verify that the disease locus corresponds with that of MCDR1 on chromosome 6q. METHODS: 37 family members were examined and the phenotype characterised. DNA samples from the affected members, 19 unaffected and five spouses, were used to perform...
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