A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient-Reference-Cited by-同舟云学术

A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient

Published:2010-12-28 Issue:1 Volume:155 Page:180-185
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kayserili Hülya,Wollnik Bernd,Güven Gamze,Emiroğlu Melike Ulubil,Başerer Nermin,Uyguner Z. Oya

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33780/fullpdf

Reference22 articles.

1. Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene;Avcin;J Rheumatol,2008

2. Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage;Bateman;Hum Mol Genet,2003

3. Messenger RNA decay during aging and development;Brewer;Ageing Res Rev,2002

4. Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus;Chen;J Med Genet,2005

5. Collagens-Structure, function and biosynthesis;Gelse;Adv Drug Deliv Rev,2003

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic variant of COL11A2 gene is functionally associated with developmental dysplasia of the hip in Chinese Han population;Aging;2020-05-12

2. Novel COL11A2 Pathogenic Variants in a Child with Autosomal Recessive Otospondylomegaepiphyseal Dysplasia: A Review of the Literature;Journal of Pediatric Genetics;2019-10-16

3. Non-ocular Stickler Syndrome With a Novel Mutation in COL11A2 Diagnosed by Massively Parallel Sequencing in Japanese Hearing Loss Patients;Annals of Otology, Rhinology & Laryngology;2015-03-16