MOLECULAR GENETIC BASIS OF THE HUMAN CHONDRODYSPLASIAS-Reference-Cited by-同舟云学术

MOLECULAR GENETIC BASIS OF THE HUMAN CHONDRODYSPLASIAS

Published:1996-09 Issue:3 Volume:25 Page:683-697
ISSN:0889-8529
Container-title:Endocrinology and Metabolism Clinics of North America
language:en
Short-container-title:Endocrinology and Metabolism Clinics of North America

Author:

Horton William A.

Publisher

Elsevier BV

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Reference65 articles.

1. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy);Ahmad;Proc Natl Acad Sci USA,1991

2. A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon;Ahmad;Am J Hum Genet,1993

3. Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with mild chondrodysplasia;Ala-Koko;Proc Natl Acad Sci USA,1990

4. Parathyroid hormone-related peptide-depleted mice show abnormal epiphyseal cartilage development and altered endochondral bone formation;Amizuka;J Cell Biol,1994

5. Thermal stability and folding of the collagen triple helix and the effects of mutations in osteogenesis imperfecta on the triple helix of type I collagen;Ba¨chinger;Am J Med Genet,1993

Cited by 36 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. Involvement of kinesins in skeletal dysplasia: a review;American Journal of Physiology-Cell Physiology;2024-08-01

2. Heritable Diseases of Connective Tissue;Kelley and Firestein's Textbook of Rheumatology;2017

3. A Track Record on SHOX: From Basic Research to Complex Models and Therapy;Endocrine Reviews;2016-06-29

4. Somatic Growth and Maturation;Endocrinology: Adult and Pediatric;2016

5. Functional characterisation of osteosarcoma cell lines and identification of mRNAs and miRNAs associated with aggressive cancer phenotypes;British Journal of Cancer;2013-09-24