The Spectrum of Pathogenic Mutations in SPINK5 in 19 Families with Netherton Syndrome: Implications for Mutation Detection and First Case of Prenatal Diagnosis-Reference-Cited by-同舟云学术

The Spectrum of Pathogenic Mutations in SPINK5 in 19 Families with Netherton Syndrome: Implications for Mutation Detection and First Case of Prenatal Diagnosis

Published:2001-08 Issue:2 Volume:117 Page:179-187
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Sprecher Eli,Amin Shivan,Nielsen Karl,Pfendner Ellen,Uitto Jouni,Richard Gabriele,Chavanas Stephane,DiGiovanna John J.,Prendiville Julie S.,Silverman Robert,Esterly Nancy B.,Spraker Mary K.,Guelig Ed,de Luna Margharita Larralde,Williams Mary L.,Buehler Bruce,Siegfried Elaine C.,Van Maldergem Lionel,Bale Sherri J.,Hovnanian Alain

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference42 articles.

1. Cloning and characterization of hurpin (protease inhibitor 13): a new skin-specific, UV-repressible serine proteinase inhibitor of the ovalbumin serpin family;Abts;J Mol Biol,1999

2. SKALP/elafin is an inducible proteinase inhibitor in human epidermal keratinocytes;Alkemade;J Cell Sci,1994

3. Natural protein proteinase inhibitors and their interaction with proteinases;Bode;Eur J Biochem,1992

4. Netherton's syndrome in two adult brothers;Caputo;Arch Dermatol,1984

5. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome;Chavanas;Nat Genet,2000

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