The Spectrum of Pathogenic Mutations in SPINK5 in 19 Families with Netherton Syndrome: Implications for Mutation Detection and First Case of Prenatal Diagnosis
Sprecher, Eli, Chavanas, Stephane, DiGiovanna, John J., Amin, Shivan, Nielsen, Karl, Prendiville, Julie S., Silverman, Robert, Esterly, Nancy B., Spraker, Mary K., Guelig, Ed, de Luna, Margharita LarrVolume:
117
Language:
english
Pages:
9
Journal:
Journal of Investigative Dermatology
DOI:
10.1046/j.1523-1747.2001.01389.x
Date:
August, 2001
File:
PDF, 285 KB
english, 2001