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

Détails

ID Serval
serval:BIB_BD1FFC809CC3
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Prenatal diagnosis of lamellar ichthyosis by direct mutational analysis of the keratinocyte transglutaminase gene
Périodique
Prenatal Diagnosis
Auteur(s)
Schorderet  D. F., Huber  M., Laurini  R. N., Von Moos  G., Gianadda  B., Deleze  G., Hohl  D.
ISSN
0197-3851 (Print)
Statut éditorial
Publié
Date de publication
05/1997
Volume
17
Numéro
5
Pages
483-6
Notes
Case Reports
Journal Article --- Old month value: May
Résumé
Autosomal recessive lamellar ichthyosis (LI) is a rare inherited disease of cornification of the skin. Recently, the gene responsible for type I LI has been identified and mutations have been described. The identification of mutations in families at risk for LI allows a precise and rapid prenatal diagnosis. A family with a previously unreported mutation is described and a prenatal diagnosis based on a simple polymerase chain reaction (PCR) approach is outlined. The molecular diagnosis was confirmed on post-mortem examination of the skin.
Mots-clé
Chorionic Villi Sampling Humans Ichthyosis, Lamellar/*diagnosis Infant, Newborn Keratinocytes/*enzymology Male *Point Mutation Polymerase Chain Reaction *Prenatal Diagnosis Transglutaminases/*genetics
Pubmed
Web of science
Création de la notice
28/01/2008 12:59
Dernière modification de la notice
20/08/2019 15:31
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