A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with netherton syndrome

Journal of the Formosan Medical Association

Volumn 102, Issue 6, 2003, Pages 418-423

  Chao, Sheau Chiou ^a   Tsai, Ya Ming ^a   Lee, Julia Yu Yun ^a  

^a NATIONAL CHENG KUNG UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Ichthyosiform erythroderma, congenital; Mutation; Serine proteinase inhibitors; SPINK5 protein, human; Taiwan

Indexed keywords

ADENINE; DNA; SERINE PROTEINASE INHIBITOR; TYROSINE; CARRIER PROTEIN; SPINK5 PROTEIN, HUMAN;

ADULT; ARTICLE; ATOPY; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CODON; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; DISEASE SEVERITY; DNA SEQUENCE; EUROPE; EXON; FAMILY STUDY; FATHER; FEMALE; GENE DELETION; GENE MUTATION; GENETIC CODE; HETEROZYGOSITY; HUMAN; IMMUNITY; MALE; MOTHER; MUTATIONAL ANALYSIS; NETHERTON DISEASE; PERMEABILITY BARRIER; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; RELIABILITY; SCHOOL CHILD; SEQUENCE ANALYSIS; SKIN BIOPSY; SKIN PERMEABILITY; TAIWAN; TRICHORRHEXIS; CHILD; CONGENITAL MALFORMATION; GENETICS; HAIR; HYPERSENSITIVITY; MUTATION; NUCLEOTIDE SEQUENCE; SYNDROME;

ABNORMALITIES; CARRIER PROTEINS; CHILD; DNA MUTATIONAL ANALYSIS; HAIR; HUMANS; HYPERSENSITIVITY; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; MALE; MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SERINE PROTEINASE INHIBITORS; SYNDROME;

EID: 0142229975     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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