Literature DB >> 6812396

Genetic disorders of collagen metabolism.

D W Hollister, P H Byers, K A Holbrook.   

Abstract

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Year:  1982        PMID： 6812396     DOI： 10.1007/978-1-4615-8315-8_1

Source DB:  PubMed          Journal:  Adv Hum Genet        ISSN： 0065-275X


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  14 in total

1.  Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen.

Authors:  R J Wenstrup; P Tsipouras; P H Byers
Journal:  J Clin Invest       Date:  1986-12       Impact factor: 14.808

2.  Identification and characterization of the human type II collagen gene (COL2A1).

Authors:  K S Cheah; N G Stoker; J R Griffin; F G Grosveld; E Solomon
Journal:  Proc Natl Acad Sci U S A       Date:  1985-05       Impact factor: 11.205

Review 3.  Genetic disorders of collagen.

Authors:  P Tsipouras; F Ramirez
Journal:  J Med Genet       Date:  1987-01       Impact factor: 6.318

Review 4.  Mutations in collagen genes. Consequences for rare and common diseases.

Authors:  D J Prockop
Journal:  J Clin Invest       Date:  1985-03       Impact factor: 14.808

5.  Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta.

Authors:  P Tsipouras; J C Myers; F Ramirez; D J Prockop
Journal:  J Clin Invest       Date:  1983-10       Impact factor: 14.808

6.  Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta.

Authors:  L A Dickson; T Pihlajaniemi; S Deak; F M Pope; A Nicholls; D J Prockop; J C Myers
Journal:  Proc Natl Acad Sci U S A       Date:  1984-07       Impact factor: 11.205

7.  Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta.

Authors:  P H Byers; J R Shapiro; D W Rowe; K E David; K A Holbrook
Journal:  J Clin Invest       Date:  1983-03       Impact factor: 14.808

8.  Is the benign joint hypermobility syndrome benign?

Authors:  H A el-Shahaly; A K el-Sherif
Journal:  Clin Rheumatol       Date:  1991-09       Impact factor: 2.980

9.  Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta.

Authors:  P Tsipouras; A L Børresen; L A Dickson; K Berg; D J Prockop; F Ramirez
Journal:  Am J Hum Genet       Date:  1984-11       Impact factor: 11.025

10.  Kniest dysplasia is characterized by an apparent abnormal processing of the C-propeptide of type II cartilage collagen resulting in imperfect fibril assembly.

Authors:  A R Poole; I Pidoux; A Reiner; L Rosenberg; D Hollister; L Murray; D Rimoin
Journal:  J Clin Invest       Date:  1988-02       Impact factor: 14.808
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