Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220.

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

Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220.

Translated title of the contribution: Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220.

J.P. Rake, AM ten Berge, E. Verlind, G. Visser, 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	Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220.
Original language	Undefined/Unknown
Pages (from-to)	173
Number of pages	1
Journal	Human Mutation
Volume	13
Issue number	2
Publication status	Published - 1999

Cite this

@article{2844278e5f974e29b2dc5c792d4a05ff,

title = "Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220.",

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

year = "1999",

language = "Undefined/Unknown",

volume = "13",

pages = "173",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley & Sons Inc.",

number = "2",

}

TY - JOUR

T1 - Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220.

AU - Rake, J.P.

AU - ten Berge, AM

AU - Verlind, E.

AU - Visser, G.

AU - Niezen-Koning, K.E.

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

AU - Smit, G.P.A.

AU - Scheffer, H.

PY - 1999

Y1 - 1999

M3 - Article

SN - 1059-7794

VL - 13

SP - 173

JO - Human Mutation

JF - Human Mutation

IS - 2

ER -