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Results: 6

Cited In for PubMed (Select 6227585)

1.

First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene.

Vives-Corrons JL, Koralkova P, Grau JM, Mañú Pereira Mdel M, Van Wijk R.

Front Physiol. 2013 Dec 30;4:393. doi: 10.3389/fphys.2013.00393. eCollection 2013.

2.

Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits.

Scuteri A, Sanna S, Chen WM, Uda M, Albai G, Strait J, Najjar S, Nagaraja R, Orrú M, Usala G, Dei M, Lai S, Maschio A, Busonero F, Mulas A, Ehret GB, Fink AA, Weder AB, Cooper RS, Galan P, Chakravarti A, Schlessinger D, Cao A, Lakatta E, Abecasis GR.

PLoS Genet. 2007 Jul;3(7):e115.

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4.

Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.

Sherman JB, Raben N, Nicastri C, Argov Z, Nakajima H, Adams EM, Eng CM, Cowan TM, Plotz PH.

Am J Hum Genet. 1994 Aug;55(2):305-13.

6.

Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.

Vasconcelos O, Sivakumar K, Dalakas MC, Quezado M, Nagle J, Leon-Monzon M, Dubnick M, Gajdusek DC, Goldfarb LG.

Proc Natl Acad Sci U S A. 1995 Oct 24;92(22):10322-6.

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