Molecular analysis of a series of israeli families with comèl-netherton syndrome

Dermatology

Volumn 228, Issue 2, 2014, Pages 183-188

  Israeli, Shirli ^a,b   Sarig, Ofer ^a   Garty, Ben Zion ^b   Indelman, Margarita ^c   Bergman, Reuven ^c   Sprecher, Eli ^a,b   Goldberg, Ilan ^a  

^a TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c RAMBAM MEDICAL CENTER   (Israel)

Author keywords

Com l Netherton syndrome; Hair; Ichthyosis; Linkage analysis; Serine proteinase inhibitors

Indexed keywords

GENOMIC DNA; SERINE PROTEINASE; SERINE PROTEINASE INHIBITOR KAZAL TYPE 5; UNCLASSIFIED DRUG; GENETIC MARKER; LEUKOCYTE ELASTASE INHIBITOR; SERINE PROTEINASE INHIBITOR; SPINK5 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ALLERGY; ALOPECIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CODING; COMEL NETHERTON SYNDROME; DEHYDRATION; ECZEMA; ENTEROPATHY; ERYTHRODERMA; FAILURE TO THRIVE; FAMILY; FEMALE; GENE MUTATION; GENE SEQUENCE; GROWTH RETARDATION; HAIR; HUMAN; INFANT; ISRAEL; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TRICHORRHEXIS; YOUNG ADULT; ATOPIC DERMATITIS; CHILD; FRAMESHIFT MUTATION; GENETIC MARKER; GENETICS; ICHTHYOSIS; JEW; MUTATION; NETHERTON SYNDROME; PEDIGREE; PRESCHOOL CHILD; PROTEIN SYNTHESIS; SEVERITY OF ILLNESS INDEX; CLINICAL ARTICLE; CONGENITAL SKIN DISEASE; DIAGNOSTIC PROCEDURE; FAMILIAL DISEASE; ISRAELI; MUTATOR GENE; SPINK5 GENE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DERMATITIS, ATOPIC; FAMILY; FRAMESHIFT MUTATION; GENETIC MARKERS; HAIR; HUMANS; ICHTHYOSIS; INFANT; ISRAEL; JEWS; MUTATION; NETHERTON SYNDROME; PEDIGREE; PROTEIN BIOSYNTHESIS; PROTEINASE INHIBITORY PROTEINS, SECRETORY; SERINE PROTEINASE INHIBITORS; SEVERITY OF ILLNESS INDEX;

EID: 84897116879     PISSN: 10188665     EISSN: 14219832     Source Type: Journal    
DOI: 10.1159/000357560     Document Type: Article

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