Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm

Introduction: Dystrophinopathies are X-linked recessive neuromuscular diseases caused by mutations in the dystrophin gene. In this study we aimed to detect mutations within the dystrophin gene in DMD patients, to determine the carrier status of women, and to perform a prenatal diagnosis. Methods: We...

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Detalles Bibliográficos
Autores principales: Luce, L.N., Ottaviani, D., Ferrer, M., Szijan, I., Cotignola, J., Giliberto, F.
Formato: JOUR
Materias:
Carrier detection
DMD
Duchenne
Dystrophin gene
Molecular diagnosis
dystrophin
adult
algorithm
article
child
clinical article
controlled study
Duchenne muscular dystrophy
dystrophinopathy
exon
familial disease
female
fetus
gene deletion
gene mutation
genetic recombination
germ line
haplotype
heterozygote
human
molecular diagnosis
mosaicism
multiplex ligation dependent probe amplification
multiplex polymerase chain reaction
pedigree
prenatal diagnosis
priority journal
segregation analysis
short tandem repeat
Algorithms
Argentina
Dystrophin
Exons
Female
Genetic Diseases, X-Linked
Haplotypes
Humans
Male
Molecular Diagnostic Techniques
Muscular Dystrophies
Muscular Dystrophy, Duchenne
Mutation
Pedigree
Tandem Repeat Sequences
Acceso en línea:http://hdl.handle.net/20.500.12110/paper_0148639X_v49_n2_p249_Luce
Aporte de:
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

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