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A single PCR marker in strong allelic association with the infantile form of neuronal ceroid lipofuscinosis facilitates reliable prenatal diagnostics and disease carrier identification.
https://arctichealth.org/en/permalink/ahliterature222484
Source
Eur J Hum Genet. 1993;1(2):125-32
Publication Type
Article
Date
1993
More detail
Author
J. Vesa
E. Hellsten
T P Mäkelä
I. Järvelä
T. Airaksinen
P. Santavuori
L. Peltonen
Author Affiliation
Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.
Source
Eur J Hum Genet. 1993;1(2):125-32
Date
1993
Language
English
Publication Type
Article
Keywords
Alleles
Base Sequence
Carrier State - diagnosis
Female
Finland
Genetic markers
Humans
Linkage Disequilibrium
Male
Molecular Sequence Data
Neuronal Ceroid-Lipofuscinoses - diagnosis - genetics
Polymerase Chain Reaction
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Prenatal Diagnosis
Abstract
The infantile form of neuronal ceroid lipofuscinosis (INCL) is a progressive encephalopathy in children
PubMed ID
7914464
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