Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis

Prenatal Diagnosis

Volumn 22, Issue 2, 2002, Pages 121-126

  Bitoun, E ^a   Bodemer, C ^b   Amiel, J ^b   De Prost, Y ^b   Stoll, C ^c   Calvas, P ^d   Hovnanian, A ^a,d  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c HÔPITAL DE HAUTEPIERRE   (France)

^d CHU PURPAN   (France)

Author keywords

Lympho epithelial Kazal type related inhibitor; Netherton syndrome; Prenatal diagnosis; Scrine protease inhibitor Kazal type 5; SPINK5

Indexed keywords

PROTEIN SPINK5; SERINE PROTEINASE INHIBITOR; UNCLASSIFIED DRUG;

AMNIOTIC FLUID CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHORION VILLUS; DNA DETERMINATION; DNA SEQUENCE; FETUS; GENE MUTATION; GENETIC DISORDER; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; ICHTHYOSIS; NETHERTON DISEASE; NUCLEOTIDE SEQUENCE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RELIABILITY; RESTRICTION MAPPING;

AMNIOCENTESIS; CARRIER PROTEINS; CHORIONIC VILLI SAMPLING; CONSANGUINITY; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC COUNSELING; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; ICHTHYOSIS; MALE; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE ANALYSIS, DNA; SERINE PROTEINASE INHIBITORS; SYNDROME; TURKEY;

EID: 0036191743     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.247     Document Type: Article

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