Homozygosity for the F119L mutation in the PMM2 gene in an adult with CDG syndrome type 1a

Translated title of the contribution: Homozygosity for the F119L mutation in the PMM2 gene in an adult with CDG syndrome type 1a

Research output: Contribution to journal › Meeting Abstract › Other research output

Translated title of the contribution	Homozygosity for the F119L mutation in the PMM2 gene in an adult with CDG syndrome type 1a
Original language	Undefined/Unknown
Pages (from-to)	P1.093
Number of pages	1
Journal	European Journal of Human Genetics
Volume	6
Issue number	Suppl. 1
Publication status	Published - 1998

Keywords

@article{9cbaf74fe25a4e9c9b826b481abbd0f4,

title = "Homozygosity for the F119L mutation in the PMM2 gene in an adult with CDG syndrome type 1a",

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

author = "\{van Tintelen\}, J.P. and G. Matthijs and W. Braam and J.J. Cassiman and M. Duran and B.T. Poll-The",

year = "1998",

language = "Undefined/Unknown",

volume = "6",

pages = "P1.093",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

number = "Suppl. 1",

}

TY - JOUR

T1 - Homozygosity for the F119L mutation in the PMM2 gene in an adult with CDG syndrome type 1a

AU - van Tintelen, J.P.

AU - Matthijs, G.

AU - Braam, W.

AU - Cassiman, J.J.

AU - Duran, M.

AU - Poll-The, B.T.

PY - 1998

Y1 - 1998

KW - Econometric and Statistical Methods: General

KW - Genetics

KW - Geneeskunde(GENK)

KW - Algemeen onderzoek

M3 - Meeting Abstract

SN - 1018-4813

VL - 6

SP - P1.093

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - Suppl. 1

ER -