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Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group.
Nat Genet. 1996 Feb; 12(2):130-6.NGen

Abstract

Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development, which has been localized to chromosome 5q32-33.1. In the present study, the isolation of new polymorphic markers has allowed the identification of overlapping recombination events in two affected individuals. Extension of the transcription map of the critical region proximally has resulted in the isolation of a new gene (which has been named Treacle) of unknown function. The identification of different mutations in five unrelated families, all of which would result in premature termination of the predicted protein, indicates that the Treacher Collins syndrome gene has been positionally cloned.

Pub Type(s)

Comment
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

8563749

Citation

"Positional Cloning of a Gene Involved in the Pathogenesis of Treacher Collins Syndrome. the Treacher Collins Syndrome Collaborative Group." Nature Genetics, vol. 12, no. 2, 1996, pp. 130-6.
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group. Nat Genet. 1996;12(2):130-6.
(1996). Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group. Nature Genetics, 12(2), 130-6.
Positional Cloning of a Gene Involved in the Pathogenesis of Treacher Collins Syndrome. the Treacher Collins Syndrome Collaborative Group. Nat Genet. 1996;12(2):130-6. PubMed PMID: 8563749.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group. PY - 1996/2/1/pubmed PY - 1996/2/1/medline PY - 1996/2/1/entrez SP - 130 EP - 6 JF - Nature genetics JO - Nat Genet VL - 12 IS - 2 N2 - Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development, which has been localized to chromosome 5q32-33.1. In the present study, the isolation of new polymorphic markers has allowed the identification of overlapping recombination events in two affected individuals. Extension of the transcription map of the critical region proximally has resulted in the isolation of a new gene (which has been named Treacle) of unknown function. The identification of different mutations in five unrelated families, all of which would result in premature termination of the predicted protein, indicates that the Treacher Collins syndrome gene has been positionally cloned. SN - 1061-4036 UR - https://www.unboundmedicine.com/medline/citation/8563749/Positional_cloning_of_a_gene_involved_in_the_pathogenesis_of_Treacher_Collins_syndrome__The_Treacher_Collins_Syndrome_Collaborative_Group_ L2 - https://doi.org/10.1038/ng0296-130 DB - PRIME DP - Unbound Medicine ER -