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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
1997-4-3
|
| pubmed:abstractText |
Mutations in the MITF gene on human chromosome 3 have been reported in families with Waardenburg Syndrome Type 2 (WS2), an autosomal dominant disorder responsible for a large proportion of congenital hearing loss. We examined 16 families with WS2 for mutations in the MITF gene. In one four-generation family, we found a novel two-base deletion in exon 6 of the MITF gene at nucleotide position 699. This mutation introduces a frame-shift and stop codon which leads to a truncation of the protein. This mutation is predicted to have phenotypic consequences not withstanding evidence of reduced penetrance and heterogeneity within the family studied.
|
| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jul
|
| pubmed:author | |
| pubmed:volume |
13
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
43-4
|
| pubmed:dateRevised |
2007-11-14
|
| pubmed:meshHeading |
pubmed-meshheading:8880147-Binding Sites,
pubmed-meshheading:8880147-DNA Mutational Analysis,
pubmed-meshheading:8880147-DNA-Binding Proteins,
pubmed-meshheading:8880147-Female,
pubmed-meshheading:8880147-Humans,
pubmed-meshheading:8880147-Male,
pubmed-meshheading:8880147-Microphthalmia-Associated Transcription Factor,
pubmed-meshheading:8880147-Mutation,
pubmed-meshheading:8880147-Pedigree,
pubmed-meshheading:8880147-Phenotype,
pubmed-meshheading:8880147-Transcription Factors,
pubmed-meshheading:8880147-Waardenburg's Syndrome
|
| pubmed:year |
1996
|
| pubmed:articleTitle |
A novel mutation in the MITF gene causes Waardenburg syndrome type 2.
|
| pubmed:affiliation |
Center for Human Genetics, Boston University School of Medicine, MA 02118, USA.
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|