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Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype.

Autosomal recessive spinal muscular atrophy (SMA) is classified, on the basis of age at onset and severity, into three types: type I, severe; type II, intermediate; and type III, mild. The critical region in 5q13 contains an inverted repeat harboring several genes, including the survival motor neuro...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: Campbell, L, Potter, A, Ignatius, J, Dubowitz, V, Davies, K
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1997
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1715870/
https://ncbi.nlm.nih.gov/pubmed/9245983
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