Document Detail


North Carolina macular dystrophy (MCDR1). A review and refined mapping to 6q14-q16.2.
MedLine Citation:
PMID:  8015785     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The macular degenerations comprise a heterogeneous group of diseases, generally reported in small families. Single, large family studies of North Carolina macular dystrophy have aided in defining the spectrum of the phenotype of this disorder and its relationship to other macular degenerations. North Carolina macular dystrophy has many phenotypic similarities to age-related macular degeneration with the glaring exception of the early age of onset of North Carolina macular dystrophy. The authors initially reported mapping this disease by linkage to the long arm of chromosome 6. They now report additional data on a total of 247 individuals in the original North Carolina macular dystrophy family whom we ascertained for clinical and molecular genetic studies. Standard clinical ophthalmic examination revealed that 96 of these individuals were affected. Molecular genetic studies increased the LOD score to 23 and refined the genomic localization of the disease-causing gene to 6q14-q16.2.
Authors:
K W Small; J Weber; A Roses; P Pericak-Vance
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.; Review    
Journal Detail:
Title:  Ophthalmic paediatrics and genetics     Volume:  14     ISSN:  0167-6784     ISO Abbreviation:  Ophthalmic Paediatr Genet     Publication Date:  1993 Dec 
Date Detail:
Created Date:  1994-07-28     Completed Date:  1994-07-28     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8206832     Medline TA:  Ophthalmic Paediatr Genet     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  143-50     Citation Subset:  IM    
Affiliation:
Department of Ophthalmology, University of Florida, Gainesville.
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Chromosome Mapping*
Chromosomes, Human, Pair 6*
Female
Genetic Markers
Humans
Linkage (Genetics)
Macular Degeneration / genetics*
Male
North Carolina
Pedigree
Phenotype
Grant Support
ID/Acronym/Agency:
EY00313/EY/NEI NIH HHS
Chemical
Reg. No./Substance:
0/Genetic Markers
Comments/Corrections
Comment In:
Ophthalmic Paediatr Genet. 1993 Dec;14(4):141-2   [PMID:  8015784 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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