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Mitochondrial tRNALeu(UUR) gene mutation and maternally inherited diabetes mellitus in Pakistan population

โœ Scribed by Khalid Siddiqui


Book ID
113643817
Publisher
Elsevier
Year
2010
Tongue
English
Weight
59 KB
Volume
2
Category
Article
ISSN
1877-5934

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A new mtDNA mutation in the tRNALeu(UUR)
โœ G. Silvestri; F. M. Santorelli; S. Shanske; C. B. Whitley; L. A. Schimmenti; S. ๐Ÿ“‚ Article ๐Ÿ“… 1994 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 897 KB

## Communicated by N m n Arnheim We report a new mutation, a C to T transition at nt 3303 of mtDNA, in seven members of a family with cardiomyopathy and myopathy: the proband and two siblings had fatal infantile cardiomyopathy, whereas in three maternal relatives the disease manifested later in li