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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2001-10-22
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pubmed:abstractText |
We report twenty-two novel mutations in the gene encoding the transcription factor LMX1B, previously shown to be mutated in persons with Nail Patella Syndrome (NPS). The mutations comprised eight missense, one splice-site, three insertion/deletion and ten nonsense or frameshift mutations. A sub-set of five recurrent mutations within the homeodomain represents over one-quarter of the described NPS mutations. The type and distribution of the mutations is consistent with the hypothesis that NPS is the result of haploinsufficiency for LMX1B.
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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 |
Nov
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pubmed:issn |
1098-1004
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pubmed:author |
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pubmed:copyrightInfo |
Copyright Wiley-Liss, Inc.
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pubmed:issnType |
Electronic
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pubmed:volume |
18
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
458
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:11668639-Codon, Nonsense,
pubmed-meshheading:11668639-DNA Mutational Analysis,
pubmed-meshheading:11668639-Frameshift Mutation,
pubmed-meshheading:11668639-Homeodomain Proteins,
pubmed-meshheading:11668639-Humans,
pubmed-meshheading:11668639-LIM-Homeodomain Proteins,
pubmed-meshheading:11668639-Mutation,
pubmed-meshheading:11668639-Mutation, Missense,
pubmed-meshheading:11668639-Nail-Patella Syndrome,
pubmed-meshheading:11668639-Protein Structure, Tertiary,
pubmed-meshheading:11668639-Transcription Factors
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pubmed:year |
2001
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pubmed:articleTitle |
Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.
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pubmed:affiliation |
Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA. imcintos@jhmi.edu
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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