Prenatal diagnosis of lamellar ichthyosis by direct mutational analysis of the keratinocyte transglutaminase gene

Prenatal Diagnosis

Volumn 17, Issue 5, 1997, Pages 483-486

  Schorderet, Daniel F ^a   Huber, Marcel ^a   Laurini, Richard N ^a   Von Moos, Genevigève ^b   Gianadda, Bernard ^c   Délèze, Guy ^c   Hohl, Daniel ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b Gynaecologist in Practice   (Switzerland)

^c Hopital de Sion   (Switzerland)

Author keywords

DNA; Lamellar ichthyosis; Prenatal diagnosis

Indexed keywords

PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; FETUS; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; KERATINOCYTE; LAMELLAR ICHTHYOSIS; MALE; NEWBORN; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKIN DISEASE;

CHORIONIC VILLI SAMPLING; HUMANS; ICHTHYOSIS, LAMELLAR; INFANT, NEWBORN; KERATINOCYTES; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; TRANSGLUTAMINASES;

EID: 0030913967     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199705)17:5<483::AID-PD80>3.0.CO;2-4     Document Type: Article

References (8)

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