Literature DB >> 1427918

PCR-based detection of two exonic polymorphisms in the human type VII collagen gene (COL7A1) at 3p21.1.

A M Christiano1, L C Chung-Honet, A Hovnanian, J Uitto.   

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Year:  1992        PMID： 1427918     DOI： 10.1016/s0888-7543(05)80204-6

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


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  5 in total

1.  Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1).

Authors:  A M Christiano; S LaForgia; A S Paller; J McGuire; H Shimizu; J Uitto
Journal:  Mol Med       Date:  1996-01       Impact factor: 6.354

Review 2.  Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene.

Authors:  J Uitto; A M Christiano
Journal:  Arch Dermatol Res       Date:  1994       Impact factor: 3.017

3.  Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.

Authors:  A Hovnanian; L Hilal; C Blanchet-Bardon; Y de Prost; A M Christiano; J Uitto; M Goossens
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

4.  A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

Authors:  G Collod; M C Babron; G Jondeau; M Coulon; J Weissenbach; O Dubourg; J P Bourdarias; C Bonaïti-Pellié; C Junien; C Boileau
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330

5.  Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus.

Authors:  M Vujic; K Hallstensson; J Wahlström; A Lundberg; C Langmaack; T Martinson
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025
  5 in total

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