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Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene

โœ Scribed by Johan L. K. Van Hove; Cynthia Freehauf; Shelley Miyamoto; Georgirene D. Vladutiu; Jacklyn Pancrudo; Eduardo Bonilla; Mark A. Lovell; Gary W. Mierau; Janet A. Thomas; Sara Shanske


Publisher
Springer
Year
2007
Tongue
English
Weight
346 KB
Volume
167
Category
Article
ISSN
0340-6997

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Acute intermittent porphyria caused by a
โœ G. A. Scobie; D. H. Llewellyn; A. J. Urquhart; S. J. Smyth; N. A. Kalsheker; P. ๐Ÿ“‚ Article ๐Ÿ“… 1990 ๐Ÿ› Springer ๐ŸŒ English โš– 541 KB

A mutation of the porphobilinogen (PBG) deaminase gene that produces the cross-reacting immunological material (CRIM)-negative type of acute intermittent porphyria (AIP) has been identified in one of 43 unrelated patients with this form of the disorder. The mutation is a C--~T transition that abolis