|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
6
|
|
pubmed:dateCreated |
2004-12-21
|
|
pubmed:abstractText |
Clinical findings and pedigree analysis led to the diagnosis of severe Norrie disease in two brothers. DNA sequencing demonstrated a novel missense mutation (703G>T) that significantly alters predicted protein structure. Less severe retinal developmental disease may be associated with milder mutations in the Norrie disease gene.
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|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
0191-3913
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
41
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
361-3
|
|
pubmed:meshHeading |
pubmed-meshheading:15609522-Blindness,
pubmed-meshheading:15609522-DNA Mutational Analysis,
pubmed-meshheading:15609522-Eye Proteins,
pubmed-meshheading:15609522-Genetic Diseases, X-Linked,
pubmed-meshheading:15609522-Humans,
pubmed-meshheading:15609522-Infant,
pubmed-meshheading:15609522-Male,
pubmed-meshheading:15609522-Mutation, Missense,
pubmed-meshheading:15609522-Nerve Tissue Proteins,
pubmed-meshheading:15609522-Pedigree,
pubmed-meshheading:15609522-Retinal Diseases
|
|
pubmed:articleTitle |
A novel missense Norrie disease mutation associated with a severe ocular phenotype.
|
|
pubmed:affiliation |
King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia.
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|
pubmed:publicationType |
Journal Article,
Case Reports
|
