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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2000-3-15
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pubmed:abstractText |
A two-generation consanguineous Pakistani family with autosomal recessive Leber congenital amaurosis (LCA, MIM 204,000) and keratoconus was identified. All affected individuals have bilateral keratoconus and congenital pigmentary retinopathy. The goal of this study was to link the disease phenotype in this family.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0146-0404
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
41
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
629-33
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:10711674-Blindness,
pubmed-meshheading:10711674-Chromosome Mapping,
pubmed-meshheading:10711674-Chromosomes, Human, Pair 17,
pubmed-meshheading:10711674-Consanguinity,
pubmed-meshheading:10711674-DNA Mutational Analysis,
pubmed-meshheading:10711674-DNA Primers,
pubmed-meshheading:10711674-Eye Proteins,
pubmed-meshheading:10711674-Female,
pubmed-meshheading:10711674-Genetic Linkage,
pubmed-meshheading:10711674-Guanylate Cyclase,
pubmed-meshheading:10711674-Humans,
pubmed-meshheading:10711674-Keratoconus,
pubmed-meshheading:10711674-Lod Score,
pubmed-meshheading:10711674-Male,
pubmed-meshheading:10711674-Microsatellite Repeats,
pubmed-meshheading:10711674-Nerve Growth Factors,
pubmed-meshheading:10711674-Optic Atrophies, Hereditary,
pubmed-meshheading:10711674-Pedigree,
pubmed-meshheading:10711674-Polymerase Chain Reaction,
pubmed-meshheading:10711674-Proteins,
pubmed-meshheading:10711674-Receptors, Cell Surface,
pubmed-meshheading:10711674-Serpins
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pubmed:year |
2000
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pubmed:articleTitle |
A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13.
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pubmed:affiliation |
Dr. A.Q. Khan Research Laboratories, Biomedical and Genetic Engineering Division, Islamabad, Pakistan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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