ISSN:
1364-6753
Keywords:
Key words Spinal muscular atrophy
;
SMN gene
;
Missense mutation
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
ABSTRACT Spinal muscular atrophy (SMA) is a motor neuron disease caused by mutations in the telomeric copy of the survival motor neuron ( SMN T ) gene. Over 90% of SMA patients harbor a deletion of SMN T , but relatively few base-pair mutations have been reported. We report here a novel G279C mutation with a G to T transversion on exon 7 (nucleotide position 868) of SMN T . Another missense mutation has been reported recently on position 869. The fact that two mutations on the same codon both result in SMA suggest a functional significance of this amino acid within the SMN protein.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s100480050040
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