Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes.

J.P. Rake; AM ten Berge; G. Visser; E Verlindt; K.E. Niezen-Koning; C.H.C.M. Buys; G.P.A. Smit; H Scheffer

Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes.

Translated title of the contribution: Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes.

J.P. Rake
, AM ten Berge
, G. Visser
, E Verlindt
, K.E. Niezen-Koning
, C.H.C.M. Buys
, G.P.A. Smit
, H Scheffer

Metabolic diseases

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

Translated title of the contribution	Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes.
Original language	Undefined/Unknown
Pages (from-to)	381
Number of pages	1
Journal	Human Mutation
Volume	15
Publication status	Published - 2000

Keywords

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

Cite this

@article{c1825ed90738417badb69d5260a0cae2,

title = "Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes.",

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

author = "J.P. Rake and \{ten Berge\}, AM and G. Visser and E Verlindt and K.E. Niezen-Koning and C.H.C.M. Buys and G.P.A. Smit and H Scheffer",

year = "2000",

language = "Undefined/Unknown",

volume = "15",

pages = "381",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley \& Sons Inc.",

}

TY - JOUR

T1 - Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes.

AU - Rake, J.P.

AU - ten Berge, AM

AU - Visser, G.

AU - Verlindt, E

AU - Niezen-Koning, K.E.

AU - Buys, C.H.C.M.

AU - Smit, G.P.A.

AU - Scheffer, H

PY - 2000

Y1 - 2000

KW - Econometric and Statistical Methods: General

KW - Geneeskunde (GENK)

KW - Genetics

KW - Geneeskunde(GENK)

KW - Algemeen onderzoek

M3 - Article

SN - 1059-7794

VL - 15

SP - 381

JO - Human Mutation

JF - Human Mutation

ER -