期刊
MOLECULAR GENETICS AND METABOLISM
卷 86, 期 1-2, 页码 269-276出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2005.04.014
关键词
nonsense-iriediated mRNA decay; NMD; premature termination codons; PTC; cDNA; gDNA; mutation analysis
The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) is an inheritable connective tissue disorder characterized by a deficiency of lysyl hydroxylase due to mutations in PLOD1. We describe a mutation analysis strategy for the PLOD1 gene using either cDNA or gDNA or a combination thereof, which allows for reliable, time-effective and efficient mutation detection in patients with EDS VIA. We report the results obtained in 9 index patients from 12 unrelated families: three patients were homozygous for three novel mutations (p.Ile454IlefsX2, p.Ala667Thr, and p.His706Arg), four patients were homozygous for the common duplication of exons 10-16, one patient was compound heterozygous for the common duplication and p.Ile454IlefsX2, and one patient was homozygous for p.Arg319X. (c) 2005 Elsevier Inc. All rights reserved.
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