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Rapid molecular prenatal diagnosis of ataxia-telangiectasia by direct mutational analysis

Author
MANCEBO, Esther1 ; BERNARDO, Ivan1 ; CASTRO, Maria J1 ; FERNANDEZ-MARTINEZ, Francisco J2 ; BARREIRO, Emilia2 ; DE-PABLOS, Paloma1 ; MARIN, M. Jesus1 ; CORTEZON, Silvia1 ; PAZ-ARTAL, Estela1 ; ALLENDE, Luis M1
[1] Servicio de Inmunologia, Hospital Universitario 12 de Octubre, Madrid, Spain
[2] Servicio de Genética, Hospital Universitario 12 de Octubre, Madrid, Spain
Source

Prenatal diagnosis. 2007, Vol 27, Num 9, pp 861-864, 4 p ; ref : 1/4 p

CODEN
PRDIDM
ISSN
0197-3851
Scientific domain
Genetics; Obstetrics, gynecology, andrology; General medicine general surgery; Neonatology
Publisher
Wiley, Chichester
Publication country
United Kingdom
Document type
Article
Language
English
Author keyword
ATM itaxia-telangiectasia prenatal diagnosis primary immunodeficiency
Keyword (fr)
Ataxie télangiectasie Biologie moléculaire Diagnostic prénatal Gynécologie Gène suppresseur tumeur Génétique Immunodéficit Mutation Néonatologie Obstétrique Primaire Télangiectasie Gène ATM Appareil circulatoire pathologie Immunopathologie Maladie héréditaire Oeil pathologie Peau pathologie Système nerveux pathologie Vaisseau sanguin pathologie
Keyword (en)
Ataxia telangiectasia Molecular biology Prenatal Diagnosis Gynecology Tumor suppressor gene Genetics Immune deficiency Mutation Neonatology Obstetrics Primary Telangiectasia Cardiovascular disease Immunopathology Genetic disease Eye disease Skin disease Nervous system diseases Vascular disease
Keyword (es)
Ataxia telangiectasia Biología molecular Diagnóstico prenatal Ginecología Gen supresor tumor Genética Inmunodeficiencia Mutación Neonatología Obstétrico Primario Telangiectasia Aparato circulatorio patología Inmunopatología Enfermedad hereditaria Ojo patología Piel patología Sistema nervioso patología Vaso sanguíneo patología
Classification
Pascal
002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology

Pascal
002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution

Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B20 Gynecology. Andrology. Obstetrics / 002B20F Pregnancy. Fetus. Placenta / 002B20F01 Management. Prenatal diagnosis

Discipline
Eukaryotes genetics. Biological and molecular evolution Gynecology. Andrology. Obstetrics Molecular and cell biology
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
19054922

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS

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