Literature DB >> 7833933

A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa.

M G Dunnill1, A J Richards, G Milana, F Mollica, R A Eady, F M Pope.   

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Year:  1994        PMID： 7833933     DOI： 10.1093/hmg/3.9.1693

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  7 in total

1.  Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.

Authors:  A Hovnanian; A Rochat; C Bodemer; E Petit; C A Rivers; C Prost; S Fraitag; A M Christiano; J Uitto; M Lathrop; Y Barrandon; Y de Prost
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

2.  Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.

Authors:  Roslyn Varki; Sara Sadowski; Jouni Uitto; Ellen Pfendner
Journal:  J Med Genet       Date:  2006-09-13       Impact factor: 6.318

Review 3.  Epidermolysis bullosa: hereditary skin fragility diseases as paradigms in cell biology.

Authors:  R A Eady; M G Dunnill
Journal:  Arch Dermatol Res       Date:  1994       Impact factor: 3.017

4.  Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa.

Authors:  M G Dunnill; C H Rodeck; A J Richards; D Atherton; B D Lake; M Petrou; R A Eady; F M Pope
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

5.  Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.

Authors:  R Gardella; L Belletti; N Zoppi; D Marini; S Barlati; M Colombi
Journal:  Am J Hum Genet       Date:  1996-08       Impact factor: 11.025

6.  Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.

Authors:  A M Christiano; J A McGrath; K C Tan; J Uitto
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

Review 7.  The molecular basis for inherited bullous diseases.

Authors:  B P Korge; T Krieg
Journal:  J Mol Med (Berl)       Date:  1996-02       Impact factor: 4.599
  7 in total

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