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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2000-9-1
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pubmed:abstractText |
Nail patella syndrome (NPS) has been shown to result from loss of function mutations within the transcription factor LMX1B. In a large NPS family a 17 bp intronic deletion encompassing a consensus branchpoint sequence was observed to segregate with the NPS phenotype. RNA analysis demonstrated that deletion of the branchpoint sequence resulted in skipping of the downstream exon. A mechanism to explain this phenomenon is presented.
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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 |
Apr
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pubmed:issn |
1018-4813
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
8
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
311-4
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:10854116-Alternative Splicing,
pubmed-meshheading:10854116-Amino Acid Sequence,
pubmed-meshheading:10854116-Base Sequence,
pubmed-meshheading:10854116-Cells, Cultured,
pubmed-meshheading:10854116-DNA,
pubmed-meshheading:10854116-DNA Mutational Analysis,
pubmed-meshheading:10854116-Exons,
pubmed-meshheading:10854116-Family Health,
pubmed-meshheading:10854116-Homeodomain Proteins,
pubmed-meshheading:10854116-Humans,
pubmed-meshheading:10854116-LIM-Homeodomain Proteins,
pubmed-meshheading:10854116-Molecular Sequence Data,
pubmed-meshheading:10854116-Nail-Patella Syndrome,
pubmed-meshheading:10854116-RNA,
pubmed-meshheading:10854116-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:10854116-Sequence Deletion,
pubmed-meshheading:10854116-Transcription Factors
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pubmed:year |
2000
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pubmed:articleTitle |
Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome.
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pubmed:affiliation |
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore 21287-4922, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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