Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2)

E.A.C.M. van Beurden; M. de Graaf; U. Wendel; R. Gitzelmann; R. Berger; I.E.T. van den Berg

Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2)

Translated title of the contribution: Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2)

E.A.C.M. van Beurden, M. de Graaf, U. Wendel, R. Gitzelmann, R. Berger, I.E.T. van den Berg

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

Translated title of the contribution	Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2)
Original language	Undefined/Unknown
Pages (from-to)	544-548
Number of pages	5
Journal	Biochimica et Biophysica Acta-Molecular and Cell Biology of Lipids
Volume	236
Publication status	Published - 1997

Keywords

Econometric and Statistical Methods: General
Genetics
Geneeskunde(GENK)
Algemeen onderzoek

Cite this

@article{f26c1b1f50d34fc98823ef2f49ae564c,

title = "Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2)",

keywords = "Econometric and Statistical Methods: General, Genetics, Geneeskunde(GENK), Algemeen onderzoek",

author = "{van Beurden}, E.A.C.M. and {de Graaf}, M. and U. Wendel and R. Gitzelmann and R. Berger and {van den Berg}, I.E.T.",

year = "1997",

language = "Undefined/Unknown",

volume = "236",

pages = "544--548",

journal = "Biochimica et Biophysica Acta-Molecular and Cell Biology of Lipids",

issn = "1388-1981",

publisher = "Elsevier",

}

Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2). / van Beurden, E.A.C.M.; de Graaf, M.; Wendel, U. et al.
In: Biochimica et Biophysica Acta-Molecular and Cell Biology of Lipids, Vol. 236, 1997, p. 544-548.

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

TY - JOUR

T1 - Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2)

AU - van Beurden, E.A.C.M.

AU - de Graaf, M.

AU - Wendel, U.

AU - Gitzelmann, R.

AU - Berger, R.

AU - van den Berg, I.E.T.

PY - 1997

Y1 - 1997

KW - Econometric and Statistical Methods: General

KW - Genetics

KW - Geneeskunde(GENK)

KW - Algemeen onderzoek

M3 - Article

SN - 1388-1981

VL - 236

SP - 544

EP - 548

JO - Biochimica et Biophysica Acta-Molecular and Cell Biology of Lipids

JF - Biochimica et Biophysica Acta-Molecular and Cell Biology of Lipids

ER -