Haplotype association and mutation analysis of the transglutaminase 1 gene for prenatal exclusion of lamellar ichthyosis

Prenatal Diagnosis

Volumn 20, Issue 2, 2000, Pages 132-137

  Pigg, Maritta ^a   Gedde Dahl Jr , Tobias ^b   Cox, Diane W ^c   Haugen, Guttorm ^b   Dahl, Niklas ^a,d  

^a UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^b UNIVERSITY OF OSLO   (Norway)

^c UNIVERSITY OF ALBERTA   (Canada)

^d UNIVERSITY CHILDREN S HOSPITAL   (Sweden)

Author keywords

Haplotype association; Lamellar ichthyosis; Mutation analysis; Prenatal diagnosis; Transglutaminase 1 gene

Indexed keywords

DNA; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHROMOSOME 14Q; FETUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HAPLOTYPE; HUMAN; INTRON; LAMELLAR ICHTHYOSIS; NORWAY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

CHROMOSOMES, HUMAN, PAIR 14; DNA MUTATIONAL ANALYSIS; DNA RESTRICTION ENZYMES; FEMALE; HAPLOTYPES; HUMANS; ICHTHYOSIS, LAMELLAR; MUTATION; NORWAY; PEDIGREE; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE ANALYSIS, DNA; TRANSGLUTAMINASES;

EID: 0033975143     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(200002)20:2<132::AID-PD765>3.0.CO;2-0     Document Type: Article

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