کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2811620 1569275 2009 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3
چکیده انگلیسی

We have identified a consanguineous Pakistani family where oligodontia is inherited along with short stature in an autosomal-recessive fashion. Increased bone density was present in the spine and at the base of the skull. Using high-density single-nucleotide polymorphism microarrays for homozygosity mapping, we identified a 28 Mb homozygous stretch shared between affected individuals on chromosome 11q13. Screening selected candidate genes within this region, we identified a homozygous nonsense mutation, Y774X, within LTBP3, the gene for the latent TGF-β binding protein 3, an extracellular matrix protein believed to be required for osteoclast function.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: - Volume 84, Issue 4, 10 April 2009, Pages 519–523
نویسندگان
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