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rdf:type |
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lifeskim:mentions |
umls-concept:C0015392,
umls-concept:C0017337,
umls-concept:C0024779,
umls-concept:C0025914,
umls-concept:C0026809,
umls-concept:C0086418,
umls-concept:C0205147,
umls-concept:C0206115,
umls-concept:C0211816,
umls-concept:C0694898,
umls-concept:C1418276,
umls-concept:C1442161,
umls-concept:C1704667,
umls-concept:C2698687
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pubmed:issue |
2
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pubmed:dateCreated |
1997-9-2
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|
pubmed:abstractText |
We describe the localization of the gene encoding reticulocalbin, a Ca2+-binding protein of the endoplasmic reticulum, on human chromosome 11p13 midway between the WT1 and the PAX6 genes and show that it is hemizygously deleted in WAGR individuals. The mouse reticulocalbin gene is also shown to map to the region of conserved synteny on mouse chromosome 2 and to be deleted in the Small eye Harwell (SeyH) mutation. Loss of the reticulocalbin gene could contribute to the early lethality of SeyH and SeyDey homozygotes.
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pubmed:grant |
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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:month |
Jun
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pubmed:issn |
0888-7543
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
1
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pubmed:volume |
42
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
260-7
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:9192846-Abnormalities, Multiple,
pubmed-meshheading:9192846-Animals,
pubmed-meshheading:9192846-Aniridia,
pubmed-meshheading:9192846-Base Sequence,
pubmed-meshheading:9192846-Calcium-Binding Proteins,
pubmed-meshheading:9192846-Chromosome Mapping,
pubmed-meshheading:9192846-Chromosomes, Human, Pair 11,
pubmed-meshheading:9192846-DNA Primers,
pubmed-meshheading:9192846-DNA-Binding Proteins,
pubmed-meshheading:9192846-Eye Abnormalities,
pubmed-meshheading:9192846-Eye Proteins,
pubmed-meshheading:9192846-Gene Deletion,
pubmed-meshheading:9192846-Genes, Wilms Tumor,
pubmed-meshheading:9192846-Homeodomain Proteins,
pubmed-meshheading:9192846-Homozygote,
pubmed-meshheading:9192846-Humans,
pubmed-meshheading:9192846-In Situ Hybridization, Fluorescence,
pubmed-meshheading:9192846-Intellectual Disability,
pubmed-meshheading:9192846-Kidney Neoplasms,
pubmed-meshheading:9192846-Male,
pubmed-meshheading:9192846-Mice,
pubmed-meshheading:9192846-Paired Box Transcription Factors,
pubmed-meshheading:9192846-Polymerase Chain Reaction,
pubmed-meshheading:9192846-Repressor Proteins,
pubmed-meshheading:9192846-Species Specificity,
pubmed-meshheading:9192846-Syndrome,
pubmed-meshheading:9192846-Urogenital Abnormalities,
pubmed-meshheading:9192846-Wilms Tumor
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pubmed:year |
1997
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pubmed:articleTitle |
The reticulocalbin gene maps to the WAGR region in human and to the Small eye Harwell deletion in mouse.
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pubmed:affiliation |
MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
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