|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
1
|
|
pubmed:dateCreated |
2004-12-29
|
|
pubmed:abstractText |
A four-generation family containing eight affected males who inherited X-linked developmental lens opacity and microcornea was studied. Some members in the family had mild to moderate nonocular clinical features suggestive of Nance-Horan syndrome. The purpose of the study was to map genetically the gene in the large 57-live-member Asian-Indian pedigree.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jan
|
|
pubmed:issn |
0146-0404
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
46
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
17-23
|
|
pubmed:dateRevised |
2010-11-18
|
|
pubmed:meshHeading |
pubmed-meshheading:15623749-Adolescent,
pubmed-meshheading:15623749-Adult,
pubmed-meshheading:15623749-Cataract,
pubmed-meshheading:15623749-Child,
pubmed-meshheading:15623749-Child, Preschool,
pubmed-meshheading:15623749-Chromosomes, Human, X,
pubmed-meshheading:15623749-Exons,
pubmed-meshheading:15623749-Female,
pubmed-meshheading:15623749-Genetic Diseases, X-Linked,
pubmed-meshheading:15623749-Genetic Heterogeneity,
pubmed-meshheading:15623749-Genetic Linkage,
pubmed-meshheading:15623749-Genotype,
pubmed-meshheading:15623749-Humans,
pubmed-meshheading:15623749-India,
pubmed-meshheading:15623749-Lod Score,
pubmed-meshheading:15623749-Male,
pubmed-meshheading:15623749-Microsatellite Repeats,
pubmed-meshheading:15623749-Middle Aged,
pubmed-meshheading:15623749-Mutation, Missense,
pubmed-meshheading:15623749-Nuclear Proteins,
pubmed-meshheading:15623749-Pedigree,
pubmed-meshheading:15623749-Phenotype,
pubmed-meshheading:15623749-Reverse Transcriptase Polymerase Chain Reaction
|
|
pubmed:year |
2005
|
|
pubmed:articleTitle |
Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.
|
|
pubmed:affiliation |
Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai, India.
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
