Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis

Détails

ID Serval
serval:BIB_662364299D70
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis
Périodique
Prenat Diagn
Auteur⸱e⸱s
Giliani S., Fiorini M., Mella P., Candotti F., Schumacher R. F., Wengler G. S., Lalatta F., Fasth A., Badolato R., Ugazio A. G., Albertini A., Notarangelo L. D.
ISSN
0197-3851 (Print)
ISSN-L
0197-3851
Statut éditorial
Publié
Date de publication
01/1999
Volume
19
Numéro
1
Pages
36-40
Langue
anglais
Notes
Giliani, S
Fiorini, M
Mella, P
Candotti, F
Schumacher, R F
Wengler, G S
Lalatta, F
Fasth, A
Badolato, R
Ugazio, A G
Albertini, A
Notarangelo, L D
eng
Case Reports
England
Prenat Diagn. 1999 Jan;19(1):36-40.
Résumé
We have performed prenatal diagnosis for Wiskott Aldrich syndrome (WAS) in two unrelated families by direct gene analysis. Using a combined non-radioactive analysis of single-strand conformational polymorphism (SSCP) and heteroduplex formation (HD), followed by automated sequencing, we studied DNA from chorionic villus sampling (CVS), allowing the diagnosis of one affected and one healthy male at the 12th week of gestation.
Mots-clé
Base Sequence, Chorionic Villi Sampling, *DNA Mutational Analysis, Female, Gestational Age, Humans, Male, Pedigree, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational, Pregnancy, *Prenatal Diagnosis, Proteins/*genetics, Sequence Analysis, DNA, Wiskott-Aldrich Syndrome/*diagnosis/*genetics, Wiskott-Aldrich Syndrome Protein
Pubmed
Création de la notice
01/11/2017 10:29
Dernière modification de la notice
20/08/2019 14:22
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