Author:
Rimoin David L.,Rasmussen I. Merete,Briggs Michael D.,Roughley Peter J.,Gruber Helen E.,Warman Matthew L.,Olsen Bjorn R.,Hsia Y. Edward,Yuen Juliet,Reinker Kent,Garber Ann P.,Grover Judy,Lachman Ralph S.,Cohn Daniel H.
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference37 articles.
1. Ahmad NN, Ala-Kokko L, Knowlton RG, Weaver EJ, Jimenez SA, Maguire JI, Tasman W, Prockop DJ (1991) Stop codon in the gene for type II procollagen (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci USA 88:6624?6627
2. Ahmad NN, McDonald-McGinn DM, Zackai EH, Knowlton RG, LaRossa D, Dimascio J, Prockop DJ (1993) A second mutation in the type II procollagen gene (COL2A1) causing the Stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. Am J Hum Genet 52:39?45
3. Ala-Kokko L, Baldwin CT, Moskowitz RW, Prockop DJ (1990) Single base mutation in the type II procollagen gene (COL2A1) as a cause of osteoarthritis associated with mild chondrodysplasia. Proc Natl Acad Sci USA 87:6565?6568
4. Bogaert R, Tiller GE, Weis MA, Gruber HE, Rimoin, DL, Cohn DH, Eyre DR (1992) An amino acid substitution (gly853?glu) in the collagen ?1(II) chain produces hypochondrogenesis. J Biol Chem 267:22522?22526
5. Briggs MD, Cohn DH (1993) Length polymorphism within a complex dinucleotide repeat in the human decorin (DCN) gene. Hum Mol Genet 2:1087
Cited by
39 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