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An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.
Yang, Catherine S; Lu, Yin; Farhi, Anita; Nelson-Williams, Carol; Kashgarian, Michael; Glusac, Earl J; Lifton, Richard P; Antaya, Richard J; Choate, Keith A.
Affiliation
  • Yang CS; Department of Dermatology, Howard Hughes Medical Institute, School of Medicine, Yale University, New Haven, Connecticut 06510, USA.
Pediatr Dermatol ; 29(6): 725-31, 2012.
Article in En | MEDLINE | ID: mdl-22515571
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epidermolysis Bullosa Dystrophica / Epidermolysis Bullosa / Penetrance / Collagen Type VII Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Pediatr Dermatol Year: 2012 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epidermolysis Bullosa Dystrophica / Epidermolysis Bullosa / Penetrance / Collagen Type VII Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Pediatr Dermatol Year: 2012 Document type: Article Affiliation country: Country of publication: