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- W2384396716 abstract "The authors report the clinical and histologic phenotypes of a LGMD1B family including a newborn child with a homozygous LMNA nonsense mutation (Y259X). At the heterozygous state the nonsense mutation leads to a classic LGMD1B phenotype; the homozygous LMNA nonsense mutation causes a lethal phenotype." @default.
- W2384396716 created "2016-06-24" @default.
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- W2384396716 date "2005-01-01" @default.
- W2384396716 modified "2023-09-23" @default.
- W2384396716 title "The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene" @default.
- W2384396716 hasPublicationYear "2005" @default.
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