WFRF:(Frank D)
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Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the γ2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency
- Burwinkel, Barbara (author)
- Scott, John W. (author)
- Bührer, Christoph (author)
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- van Landeghem, Frank K. H. (author)
- Cox, Gerald F. (author)
- Wilson, Callum J. (author)
- Hardie, D. Grahame (author)
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- (creator_code:org_t)
- The American Society of Human Genetics, 2005
- 2005
- English.
- In: American Journal of Human Genetics. - : The American Society of Human Genetics. - 0002-9297 .- 1537-6605. ; 76:6, s. 1034-1049
- Journal article (peer-reviewed)
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Subject headings
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
Keyword
- Genetics
- Genetik
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- ref (subject category)
- art (subject category)
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- NATURAL SCIENCES
- NATURAL SCIENCES
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- Uppsala University
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