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rdf:type |
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lifeskim:mentions |
umls-concept:C0015576,
umls-concept:C0022578,
umls-concept:C0026882,
umls-concept:C0205094,
umls-concept:C0240620,
umls-concept:C0339527,
umls-concept:C0425375,
umls-concept:C0796349,
umls-concept:C1314792,
umls-concept:C1412303,
umls-concept:C1553586
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pubmed:issue |
5
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|
pubmed:dateCreated |
2001-9-7
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|
pubmed:abstractText |
Leber's congenital amaurosis (LCA) represents the earliest and severest form of retinal dystrophy leading to congenital blindness. A total of 20% of children attending blind schools have this disease. LCA has a multigenic basis and is proving central to our understanding of the development of the retina. We describe the clinical and molecular genetic features of four inbred pedigrees from neighbouring remote villages in northern Pakistan, in which some of the affected members have concurrent keratoconus.
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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 |
Aug
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pubmed:issn |
0008-4182
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pubmed:author |
pubmed-author:BulmanDD,
pubmed-author:DamjiK FKF,
pubmed-author:GuptaS KSK,
pubmed-author:HusseinNN,
pubmed-author:JamalAA,
pubmed-author:KarimNN,
pubmed-author:KhanRR,
pubmed-author:KoenekoopR KRK,
pubmed-author:LadakS SSS,
pubmed-author:LoyerMM,
pubmed-author:RahimMM,
pubmed-author:SohockiM MMM
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pubmed:issnType |
Print
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pubmed:volume |
36
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
252-9
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:11548141-Adolescent,
pubmed-meshheading:11548141-Adult,
pubmed-meshheading:11548141-Aged,
pubmed-meshheading:11548141-Blindness,
pubmed-meshheading:11548141-Carrier Proteins,
pubmed-meshheading:11548141-Child,
pubmed-meshheading:11548141-Child, Preschool,
pubmed-meshheading:11548141-Chromosomes, Human, Pair 17,
pubmed-meshheading:11548141-Codon, Nonsense,
pubmed-meshheading:11548141-Codon, Terminator,
pubmed-meshheading:11548141-Consanguinity,
pubmed-meshheading:11548141-DNA Mutational Analysis,
pubmed-meshheading:11548141-Eye Proteins,
pubmed-meshheading:11548141-Female,
pubmed-meshheading:11548141-Genetic Linkage,
pubmed-meshheading:11548141-Haplotypes,
pubmed-meshheading:11548141-Humans,
pubmed-meshheading:11548141-Keratoconus,
pubmed-meshheading:11548141-Male,
pubmed-meshheading:11548141-Middle Aged,
pubmed-meshheading:11548141-Optic Atrophy, Hereditary, Leber,
pubmed-meshheading:11548141-Pakistan,
pubmed-meshheading:11548141-Pedigree,
pubmed-meshheading:11548141-Polymorphism, Genetic,
pubmed-meshheading:11548141-Retinitis Pigmentosa,
pubmed-meshheading:11548141-Tryptophan
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pubmed:year |
2001
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|
pubmed:articleTitle |
Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p.
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pubmed:affiliation |
Ottawa Hospital Research Institute, Ont. kdamji@ottahospital.on.ca
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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