Literature DB >> 3997516

[Epidermolysis bullosa atrophicans generalisata mitis].

C Zortea-Caflisch.   

Abstract

Since the first description in 1976, epidermolysis bullosa atrophicans generalisata mitis has been recognized as a seperate entity, based on clinical and electron microscopical findings, and has been differentiated from epidermolysis atrophicans generalisata gravis Herlitz. Our own observations on a patient are presented by clinical documentation.

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Year:  1985        PMID： 3997516

Source DB:  PubMed          Journal:  Hautarzt        ISSN： 0017-8470            Impact factor:   0.751


  1 in total

1.  Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa.

Authors:  H Schumann; N Hammami-Hauasli; L Pulkkinen; A Mauviel; W Küster; U Lüthi; K Owaribe; J Uitto; L Bruckner-Tuderman
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025
  1 in total

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