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