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Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family.

Spinal muscular atrophy (SMA) is a common fatal motor-neuron disorder characterized by degeneration of the anterior horn cells of the spinal cord, which results in proximal muscle weakness. Three forms of the disease, exhibiting differing phenotypic severity, map to chromosome 5q13 in a region of un...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Campbell, L, Daniels, R J, Dubowitz, V, Davies, K E
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1998
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377239/
https://ncbi.nlm.nih.gov/pubmed/9634516
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