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

J.-L. Vives-Corrons; P. Koralkova; J.M. Grau; M. del Mar Manu Pereira; H.A. van Wijk

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

Translated title of the contribution: First description of phosphofructokinase deficiency in Spain: identification of a novel homozygous missense mutation in the PFKM gene

J.-L. Vives-Corrons, P. Koralkova, J.M. Grau, M. del Mar Manu Pereira, H.A. van Wijk

Research output: Contribution to journal › Article › Academic › peer-review

Translated title of the contribution	First description of phosphofructokinase deficiency in Spain: identification of a novel homozygous missense mutation in the PFKM gene
Original language	Undefined/Unknown
Pages (from-to)	393
Number of pages	6
Journal	Frontiers in Physiology [E]
Volume	4
Publication status	Published - 2013

Cite this

@article{d40a44849058462ea8760ba84da03806,

title = "First description of phosphofructokinase deficiency in Spain: identification of a novel homozygous missense mutation in the PFKM gene",

author = "J.-L. Vives-Corrons and P. Koralkova and J.M. Grau and \{del Mar Manu Pereira\}, M. and \{van Wijk\}, H.A.",

year = "2013",

language = "Undefined/Unknown",

volume = "4",

pages = "393",

journal = "Frontiers in Physiology [E]",

issn = "1664-042X",

publisher = "Frontiers Research Foundation",

}

TY - JOUR

T1 - First description of phosphofructokinase deficiency in Spain: identification of a novel homozygous missense mutation in the PFKM gene

AU - Vives-Corrons, J.-L.

AU - Koralkova, P.

AU - Grau, J.M.

AU - del Mar Manu Pereira, M.

AU - van Wijk, H.A.

PY - 2013

Y1 - 2013

M3 - Article

SN - 1664-042X

VL - 4

SP - 393

JO - Frontiers in Physiology [E]

JF - Frontiers in Physiology [E]

ER -