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Literature DB >> 2883320

Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family.

Abstract

The inheritance of restriction fragment length polymorphisms for two fibrillar collagen genes (COL1A2 and COL3A1) has been studied in a large Marfan syndrome kindred. We are able to show discordant segregation between the Marfan syndrome and each of the two collagen gene markers.

Entities: Disease Gene

Mesh：

Substances：
Collagen

Year: 1987 PMID： 2883320 PMCID： PMC1049947 DOI： 10.1136/jmg.24.3.148

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

18 in total

Review 1. The Marfan syndrome: diagnosis and management.

Authors: R E Pyeritz; V A McKusick
Journal: N Engl J Med Date: 1979-04-05 Impact factor: 91.245

2. Hypervariable 'minisatellite' regions in human DNA.

Authors: A J Jeffreys; V Wilson; S L Thein
Journal: Nature Date: 1985 Mar 7-13 Impact factor: 49.962

3. Life expectancy and causes of death in the Marfan syndrome.

Authors: J L Murdoch; B A Walker; B L Halpern; J W Kuzma; V A McKusick
Journal: N Engl J Med Date: 1972-04-13 Impact factor: 91.245

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. "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum.

Authors: A P Feinberg; B Vogelstein
Journal: Anal Biochem Date: 1984-02 Impact factor: 3.365

6. Regional localization of the human alpha 2(I) collagen gene on chromosome 7 by molecular hybridization.

Authors: E Solomon; L Hiorns; R Dalgleish; P Tolstoshev; R Crystal; B Sykes
Journal: Cytogenet Cell Genet Date: 1983

7. Basic defects in Marfan syndrome.

Authors: R E Pyeritz; V A McKusick
Journal: N Engl J Med Date: 1981-10-22 Impact factor: 91.245

8. Marfan syndrome: abnormal alpha 2 chain in type I collagen.

Authors: P H Byers; R C Siegel; K E Peterson; D W Rowe; K A Holbrook; L T Smith; Y H Chang; J C Fu
Journal: Proc Natl Acad Sci U S A Date: 1981-12 Impact factor: 11.205

9. Isolation and characterization of a human pro alpha 2(I) collagen gene segment.

Authors: S Tajima; J P Ting; S R Pinnell; R E Kaufman
Journal: J Invest Dermatol Date: 1984-03 Impact factor: 8.551

10. Cardiac, skeletal, and ocular abnormalities in patients with Marfan's syndrome and in their relatives. Comparison with the cardiac abnormalities in patients with kyphoscoliosis.

Authors: L Bruno; S Tredici; M Mangiavacchi; V Colombo; G F Mazzotta; C R Sirtori
Journal: Br Heart J Date: 1984-02

16 in total

1. Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts.

Authors: D M Milewicz; R E Pyeritz; E S Crawford; P H Byers
Journal: J Clin Invest Date: 1992-01 Impact factor: 14.808

2. Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene.

Authors: K Kainulainen; B Steinmann; F Collins; H C Dietz; C A Francomano; A Child; M W Kilpatrick; D J Brock; M Keston; R E Pyeritz
Journal: Am J Hum Genet Date: 1991-09 Impact factor: 11.025

3. Linkage data for Marfan syndrome and markers on chromosomes 1 and 11.

Authors: J de Groote; P A Farndon; M V Kilpatrick; A de Paepe; J W Oorthuys; N C Nevin; A H Child; F M Pope
Journal: J Med Genet Date: 1990-02 Impact factor: 6.318

4. Linkage analysis in Marfan syndrome.

Authors: R C Schwartz; S H Blanton; C A Hyde; T R Sottile; L Hudgins; M Sarfarazi; P Tsipouras
Journal: J Med Genet Date: 1990-02 Impact factor: 6.318

5. Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family.

Authors: C Boileau; G Jondeau; C Bonaiti; M Coulon; G Delorme; O Dubourg; J P Bourdarias; C Junien
Journal: J Med Genet Date: 1990-02 Impact factor: 6.318

Review 6. Marfan syndrome.

Authors: J R Gray; S J Davies
Journal: J Med Genet Date: 1996-05 Impact factor: 6.318