The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: Implications for mutation detection and first case of prenatal diagnosis

Journal of Investigative Dermatology

Volumn 117, Issue 2, 2001, Pages 179-187

  Sprecher, Eli ^a   Amin, Shivan ^a   Nielsen, Karl ^a   Pfendner, Ellen ^a   Uitto, Jouni ^a   Richard, Gabriele ^a   Chavanas, Stephane ^b   Digiovanna, John J ^c   Prendiville, Julie S ^d   Silverman, Robert ^e   Esterly, Nancy B ^f   Esterly, Mary K ^g   Ed, Guelig ^h   de Luna, Margharita Larralde ⁱ   Williams, Mary L ^j   Buehler, Bruce ^k   Siegfried, Elaine C ^l   Van Maldergem, Lionel ^m   Bale, Sherri J ⁿ   Hovnanian, Alain ^b  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c RHODE ISLAND HOSPITAL   (United States)

^d BC CHILDREN S HOSPITAL   (Canada)

^e GEORGETOWN UNIVERSITY   (United States)

^f Children s Hospital Milwaukee   (United States)

^g EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h Wellsboro Family Praxis   (United States)

ⁱ HOSPITAL RAMOS MEJÍA   (Argentina)

^j UNIVERSITY OF CALIFORNIA   (United States)

^k UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^l SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^m INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

ⁿ NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

more..

Author keywords

Atopic dermatitis; Congenital recessive ichthyosis; Hair abnormalities; Linkage analysis; Serine proteinase inhibitors

Indexed keywords

IMMUNOGLOBULIN E; PROTEIN; PROTEIN SPINK5; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; DISEASE SEVERITY; DNA SEQUENCE; EXON; GENE DELETION; GENE INSERTION; GENE MAPPING; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENOTYPE; HETERODUPLEX ANALYSIS; HUMAN; INTRON; NETHERTON DISEASE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 0035723116     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2001.01389.x     Document Type: Article

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