Identification of a polymorphic ca repeat in the COL6A2 gene on human chromosome 21q22.3

Human Heredity

Volumn 46, Issue 4, 1996, Pages 239-240

  Comeglio, Paolo ^a,b   Saitta, Biagio ^a,b   Pepe, Guglielmina ^c   Chu, Mon Li ^a,b  

^a Departments of Biochemistry and Molecular Biology   (United States)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c UNIVERSITY OF FLORENCE   (Italy)

Author keywords

CA repeat; COL6A2; Polymorphism; Type VI collagen

Indexed keywords

COLLAGEN TYPE 6; REPETITIVE DNA;

ALLELE; ARTICLE; CHROMOSOME 21Q; GENE FREQUENCY; GENETIC POLYMORPHISM; HUMAN; INTRON; NORMAL HUMAN;

EID: 0030006449     PISSN: 00015652     EISSN: 14230062     Source Type: Journal    
DOI: 10.1159/000154360     Document Type: Article

References (4)

1. Timpl R, Chu ML: Microfibrillar collagen type VI; in Yurchcnco PD, Birk DE, Mecham RP (eds): Extracellular Matrix Assembly anci Structure, San Diego, Academic Press, 1994. pp 207-242.
2. Weil D, Mattei MG, Passage E, N'Guyen VC, Pribula-Conway D, Mann K, Deutzmann R, Timpl R, Chu ML: Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen, Am J Hum Genet 1988:42: 435-445.
3. Saitta B, Timpl R, Chu ML: Human a2(Vl) collagen gene - Heterogeneity at the 5'-untranslated region generated by an alternate exon, J Biol Chem 1992;267:6188-6196.
4. Weber JL: Informativeness of human (dC-dA)„-(dG-dT), polymorphisms, Genomics 1990;7:524-530.