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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 |
2009-1-5
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pubmed:abstractText |
The purpose of the study was to evaluate the GPR143 gene (G-protein coupled receptor 143) in a Chinese three-generation family with OA1, including four carriers and a proband with clinical features of X-linked ocular albinism.
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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:issn |
1120-6721
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
19
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
124-8
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pubmed:meshHeading |
pubmed-meshheading:19123159-Albinism, Ocular,
pubmed-meshheading:19123159-Asian Continental Ancestry Group,
pubmed-meshheading:19123159-Child, Preschool,
pubmed-meshheading:19123159-Chromatography, High Pressure Liquid,
pubmed-meshheading:19123159-Codon, Nonsense,
pubmed-meshheading:19123159-DNA Mutational Analysis,
pubmed-meshheading:19123159-Exons,
pubmed-meshheading:19123159-Eye Proteins,
pubmed-meshheading:19123159-Genetic Diseases, X-Linked,
pubmed-meshheading:19123159-Humans,
pubmed-meshheading:19123159-Infant,
pubmed-meshheading:19123159-Male,
pubmed-meshheading:19123159-Membrane Glycoproteins,
pubmed-meshheading:19123159-Pedigree,
pubmed-meshheading:19123159-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:19123159-Registries,
pubmed-meshheading:19123159-Sequence Analysis, DNA
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pubmed:articleTitle |
Identification of a novel mutation in a Chinese family with X-linked ocular albinism.
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pubmed:affiliation |
Department of Dermatology, Xuan Wu Hospital, Capital Medical University, Beijing, China.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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