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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 |
2001-6-14
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pubmed:abstractText |
Mutations in the OA1 gene on the short arm of the X chromosome are known to cause X-linked ocular albinism (x1OA) in males. A four-generation family with this disorder, including asymptomatic carrier females, was investigated by molecular analysis of the OA1 gene.
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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:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0721-832X
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
239
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
167-72
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:11405065-Adult,
pubmed-meshheading:11405065-Albinism, Ocular,
pubmed-meshheading:11405065-Amino Acid Sequence,
pubmed-meshheading:11405065-Base Sequence,
pubmed-meshheading:11405065-Child, Preschool,
pubmed-meshheading:11405065-DNA Mutational Analysis,
pubmed-meshheading:11405065-Electroretinography,
pubmed-meshheading:11405065-Evoked Potentials, Visual,
pubmed-meshheading:11405065-Exons,
pubmed-meshheading:11405065-Female,
pubmed-meshheading:11405065-Fundus Oculi,
pubmed-meshheading:11405065-Genetic Linkage,
pubmed-meshheading:11405065-Heterozygote Detection,
pubmed-meshheading:11405065-Humans,
pubmed-meshheading:11405065-Infant,
pubmed-meshheading:11405065-Male,
pubmed-meshheading:11405065-Molecular Sequence Data,
pubmed-meshheading:11405065-Ophthalmoscopy,
pubmed-meshheading:11405065-Pedigree,
pubmed-meshheading:11405065-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:11405065-Sequence Deletion,
pubmed-meshheading:11405065-Visual Acuity,
pubmed-meshheading:11405065-X Chromosome
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pubmed:year |
2001
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pubmed:articleTitle |
X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis.
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pubmed:affiliation |
Augenklinik der Universität München, Mathildenstrasse 8, 80336 Munich, Germany. grudolph@ak-i.med.uni-muenchen.de
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pubmed:publicationType |
Journal Article
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