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Prenatal diagnosis of glycogen storage disease type 1a by single stranded conformation polymorphism (SSCP)

Author
PARVARI, R1 ; HERSHKOVITZ, E2 ; CARMI, R2 ; MOSES, S
[1] Genetic Institute, Soroka Medical Center, Faculty of Health Sciences, Ben Gurion University, Beer-Sheva 84101, Israel
[2] Department of Pediatrics, Soroka Medical Center, Faculty of Health Sciences, Ben Gurion University, Beer-Sheva 84101, Israel
Source

Prenatal diagnosis. 1996, Vol 16, Num 9, pp 862-865 ; ref : 12 ref

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
Keyword (fr)
Biologie moléculaire Diagnostic Exploration Foetus Glycogène Gène Homme Mutation Polymorphisme conformation simple brin Prénatal Thésaurismose Enzymopathie Métabolisme pathologie
Keyword (en)
Molecular biology Diagnosis Exploration Fetus Glycogen Gene Human Mutation Single strand conformation polymorphism Prenatal Storage disease Enzymopathy Metabolic diseases
Keyword (es)
Biología molecular Diagnóstico Exploración Feto Glicógeno Gen Hombre Mutación Polimorfismo conformación cadena única Prenatal Tesaurosis Enzimopatía Metabolismo patología
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B20 Gynecology. Andrology. Obstetrics / 002B20F Pregnancy. Fetus. Placenta / 002B20F01 Management. Prenatal diagnosis

Discipline
Gynecology. Andrology. Obstetrics
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
3231027

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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