Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus.

doi:10.1002/(SICI)1098-1004(1996)7:3<198::AID-HUMU3>3.0.CO;2-7

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Article

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus.

Human mutation - 1 Jan 1996

Capon F, Levato C, Bussaglia E, Lo Cicero S, Tizzano E F, Baiget M, Silani V, Pizzuti A, Novelli G, Dallapiccola B

Abstract excerpt

Multicopy dinucleotide repeats have been characterized in the spinal muscular atrophy (SMA) region on chromosome 5q13, which reveal deletions in some SMA patients. 119 Italian and Spanish SMA families have been analysed using the C272 and C212 markers. Seventy percent of these families were informative. We found 9.4% de novo deletions in SMA I and 1.5% in SMA II families. A single inherited deletion segregating...

Topics

Alleles
Chromosomes, Human, Pair 5
Electrophoresis, Polyacrylamide Gel
Female
Gene Deletion
Gene Dosage
Genetic Linkage
Genetic Markers
Heterozygote
Homozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Italy

Male

Muscular Atrophy, Spinal

Mutation

Pedigree

Polymerase Chain Reaction

Repetitive Sequences, Nucleic Acid

Source

Open in PubMed

Identifiers

PMID: 8829652
DOI: 10.1002/(SICI)1098-1004(1996)7:3<198::AID-HUMU3>3.0.CO;2-7

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