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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2011-1-4
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pubmed:abstractText |
To identify the solute carrier family 4 (sodium borate cotransporter) member 11 (SLC4A11) mutation spectrum and to perform genotype-phenotype correlations in autosomal recessive Congenital Hereditary Endothelial Dystrophy (CHED2) in North Indian patients.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/21203343-10512674,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21203343-11017086,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21203343-15525507,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21203343-16767101,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21203343-16825429,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21203343-17220209,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21203343-17397048,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21203343-17679935,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21203343-18024964,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21203343-18474783,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21203343-19337156,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21203343-20036349,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21203343-20118786,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21203343-302697,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21203343-3344216,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21203343-8634716,
http://linkedlifedata.com/resource/pubmed/commentcorrection/21203343-9686844
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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 |
1090-0535
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
16
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2955-63
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pubmed:dateRevised |
2011-7-20
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pubmed:meshHeading |
pubmed-meshheading:21203343-Adolescent,
pubmed-meshheading:21203343-Adult,
pubmed-meshheading:21203343-Amino Acid Sequence,
pubmed-meshheading:21203343-Anion Transport Proteins,
pubmed-meshheading:21203343-Antiporters,
pubmed-meshheading:21203343-Base Sequence,
pubmed-meshheading:21203343-Child,
pubmed-meshheading:21203343-Child, Preschool,
pubmed-meshheading:21203343-Cohort Studies,
pubmed-meshheading:21203343-DNA Mutational Analysis,
pubmed-meshheading:21203343-Descemet Membrane,
pubmed-meshheading:21203343-Family,
pubmed-meshheading:21203343-Female,
pubmed-meshheading:21203343-Fuchs' Endothelial Dystrophy,
pubmed-meshheading:21203343-Genes, Recessive,
pubmed-meshheading:21203343-Genetic Association Studies,
pubmed-meshheading:21203343-Humans,
pubmed-meshheading:21203343-India,
pubmed-meshheading:21203343-Male,
pubmed-meshheading:21203343-Middle Aged,
pubmed-meshheading:21203343-Molecular Sequence Data,
pubmed-meshheading:21203343-Mutation,
pubmed-meshheading:21203343-Pedigree,
pubmed-meshheading:21203343-RNA Splice Sites,
pubmed-meshheading:21203343-Young Adult
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pubmed:year |
2010
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pubmed:articleTitle |
Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort.
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pubmed:affiliation |
Laboratory of Cyto-Molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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