Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis
Details
Serval ID
serval:BIB_662364299D70
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis
Journal
Prenat Diagn
ISSN
0197-3851 (Print)
ISSN-L
0197-3851
Publication state
Published
Issued date
01/1999
Volume
19
Number
1
Pages
36-40
Language
english
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.
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.
Abstract
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.
Keywords
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
Create date
01/11/2017 10:29
Last modification date
20/08/2019 14:22
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