Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1-Reference-Cited by-同舟云学术

Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1

Published:2008-06-28 Issue:5 Volume:50 Page:304-309
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Lund Allan M.,Schwartz Marianne,Skovby Flemming

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1996.tb02379.x/fullpdf

Reference26 articles.

1. Crystal and molecular structure of a collagen-like peptide at 1.9 Å resolution;Bella;Science,1994

2. Proteolytic enzymes as probes for the triple-helical conformation of procollagen;Bruckner;Anal Biochem,1981

3. Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for αl-glycine 904 in a type I procollagen gene (COL1A1);Constantinou;Am J Hum Genet,1990

4. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease;Edwards;Hum Mutat,1992

Cited by 13 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. Visualized procollagen Iα1 demonstrates the intracellular processing of propeptides;Life Science Alliance;2022-02-18

2. Osteogenesis imperfecta and other defects of bone development as occasional causes of adult osteoporosis;Marcus and Feldman's Osteoporosis;2021

3. Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta – A retrospective cohort study;PLOS ONE;2017-05-12

4. Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes;Oral Diseases;2016-09-13

5. Osteogenesis Imperfecta and Other Defects of Bone Development as Occasional Causes of Adult Osteoporosis;Osteoporosis;2013