A Novel Mutation (R271X) in the Myotubularin Gene Causes a Severe Miotubular Myopathy

Publisher: Karger

E-ISSN: 1423-0062|49|1|59-60

ISSN: 0001-5652

Source: Human Heredity, Vol.49, Iss.1, 1999-01, pp. : 59-60

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Abstract