Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

doi:10.1093/hmg/4.4.631

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Article

Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

Human molecular genetics - 1 Apr 1995

Rodrigues N R, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies K E

Abstract excerpt

Autosomal recessive spinal muscular atrophy is a motor neuron disease which affects about 1 in 10,000 births. Recent evidence shows that the candidate region contains multiple copies of genes and pseudogenes and is characterised by genome instability. We have analysed the frequency of deletions i...

Topics

Chromosomes, Human, Pair 5
Genes, Recessive
Humans
Motor Neurons
Muscular Atrophy, Spinal
Phenotype
Polymorphism, Single-Stranded Conformational
Sequence Deletion

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