Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.

The survival motor neuron (SMN) transcript is encoded by two genes, SMNT and SMNC. The autosomal recessive proximal spinal muscular atrophy that maps to 5q12 is caused by mutations in the SMNT gene. The SMNT gene can be distinguished from the SMNC gene by base-pair changes in exons 7 and 8. SMNT exo...

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Detalhes bibliográficos
Main Authors: McAndrew, P E, Parsons, D W, Simard, L R, Rochette, C, Ray, P N, Mendell, J R, Prior, T W, Burghes, A H
Formato: Artigo
Idioma:Inglês
Publicado em: 1997
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1716150/
https://ncbi.nlm.nih.gov/pubmed/9199562
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