Literature DB >> 7759090

A new biallelic DNA polymorphism of the human COL5A1 gene.

F Cappa1, G Caridi, G Gimelli, G M Ghiggeri.   

Abstract

A cDNA probe of the human COL5A1 gene detects a frequent biallelic PstI polymorphism. Allele A has a frequency of 54% whereas that of allele B is 46%. This restriction fragment length polymorphism provides a useful marker for linkage analysis in 9q34.3.

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Year:  1995        PMID： 7759090     DOI： 10.1007/BF00223882

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  3 in total

1.  Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella syndrome.

Authors:  D S Greenspan; M G Byers; R L Eddy; W Cheng; S Jani-Sait; T B Shows
Journal:  Genomics       Date:  1992-04       Impact factor: 5.736

2.  Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus?

Authors:  G M Ghiggeri; G Caridi; P Altieri; A Pezzolo; G Gimelli; O Zuffardi
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

3.  Mapping of the human COL5A1 gene to chromosome 9q34.3.

Authors:  G Caridi; A Pezzolo; R Bertelli; G Gimelli; A Di Donato; G Candiano; G M Ghiggeri
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132
  3 in total
  1 in total

1.  Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).

Authors:  U Schwarze; M Atkinson; G G Hoffman; D S Greenspan; P H Byers
Journal:  Am J Hum Genet       Date:  2000-05-04       Impact factor: 11.025
  1 in total

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