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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1998-5-20
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pubmed:abstractText |
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 investigation, a second family affected with NCMD was detected in Germany. As some authors still doubt the good prognosis of this disease, our results should be added to the experience of others.
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pubmed:language |
ger
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0941-293X
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
95
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
13-8
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:9531796-Adolescent,
pubmed-meshheading:9531796-Adult,
pubmed-meshheading:9531796-Aged,
pubmed-meshheading:9531796-Child,
pubmed-meshheading:9531796-Child, Preschool,
pubmed-meshheading:9531796-Chromosome Aberrations,
pubmed-meshheading:9531796-Chromosome Disorders,
pubmed-meshheading:9531796-Chromosome Mapping,
pubmed-meshheading:9531796-Chromosomes, Human, Pair 6,
pubmed-meshheading:9531796-Female,
pubmed-meshheading:9531796-Fluorescein Angiography,
pubmed-meshheading:9531796-Genes, Dominant,
pubmed-meshheading:9531796-Germany,
pubmed-meshheading:9531796-Humans,
pubmed-meshheading:9531796-Macular Degeneration,
pubmed-meshheading:9531796-Male,
pubmed-meshheading:9531796-Middle Aged,
pubmed-meshheading:9531796-North Carolina,
pubmed-meshheading:9531796-Pedigree,
pubmed-meshheading:9531796-Prognosis
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pubmed:year |
1998
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pubmed:articleTitle |
[North Carolina macular dystrophy. Hereditary macular disease with good functional prognosis].
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pubmed:affiliation |
Augenklinik, Klinikum Innenstadt, Ludwig-Maximilians-Universität München.
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pubmed:publicationType |
Journal Article,
English Abstract
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