A Combination of a Common Splice Site Mutation and Frameshift Mutation in the COL7A1 Gene: Absence of Functional Collagen VII in Keratinocytes and Skin-Reference-Cited by-同舟云学术

A Combination of a Common Splice Site Mutation and Frameshift Mutation in the COL7A1 Gene: Absence of Functional Collagen VII in Keratinocytes and Skin

Published:1997-09 Issue:3 Volume:109 Page:384-389
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Hammami-Hauasli Nadja,Ulrike Kalinke D.,Schumann Hauke,Kalinke Ulrich,Pontz Bertram F.,Anton-Lamprecht Ingrun,Pulkkinen Leena,Zimmermann Mirjam,Uitto Jouni,Bruckner-Tuderman Leena

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

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4. Evidence for a structural abnormality of collagen VII in a patient with dystrophic epidermolysis bullosa inversa;Bruckner-Tuderman;J Invest Dermatol,1992

5. Lack of type VII collagen in unaffected skin of patients with severe recessive dystrophic epidermolysis bullosa;Bruckner-Tuderman;Dermatologica,1988

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