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North Carolina macular dystrophy: Hereditäre Makulaerkrankung mit guter funktioneller Prognose -- a hereditary macular dystrophy with good visual prognosis

Schworm, H D, Ulbig, M W, Hoops, J, Rudolph, G, Weber, Bernhard H. F. , Ehrt, O and Boergen, K-P (1998) North Carolina macular dystrophy: Hereditäre Makulaerkrankung mit guter funktioneller Prognose -- a hereditary macular dystrophy with good visual prognosis. Der Ophthalmologe 95 (1), pp. 13-18.

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Abstract

Background: North Carolina macular dystrophy (NCMD) is a rare autosomal dominant maculopathy with highly variable expressivity. Genetic analysis of an American family consisting of 247 members out of which 96 were affected with NCMD allowed chromosomal assignment of the NCMD locus to 6q14-q16.2. Few families with NCMD are known in Europe, one of these is living in Germany. By routine ...

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Item type:Article
Date:1998
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1007/s003470050229DOI
9531796PURL
Keywords:North Carolina macular dystrophy; Hereditary maculopathy; Linkage analysis; Good visual prognosis
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:No
Item ID:35498
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