Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

H.R. Waterham; F.A. Wijburg; R.C.M. Hennekam; P. Vreken; B.T. Poll-The; L. Dorland; M. Duran; P.E. Jira; J.A.M. Smeitink; R.A. Wevers; R.J.A. Wanders

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

Translated title of the contribution: Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

H.R. Waterham, F.A. Wijburg, R.C.M. Hennekam, P. Vreken, B.T. Poll-The, L. Dorland, M. Duran, P.E. Jira, J.A.M. Smeitink, R.A. Wevers, R.J.A. Wanders

Metabolic diseases

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

Translated title of the contribution	Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene
Original language	Undefined/Unknown
Pages (from-to)	329-338
Number of pages	10
Journal	American Journal of Human Genetics
Volume	63
Publication status	Published - 1998

Keywords

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

Cite this

@article{25037be6b86a4d2b81da9a50eb35eb4c,

title = "Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene",

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

author = "H.R. Waterham and F.A. Wijburg and R.C.M. Hennekam and P. Vreken and B.T. Poll-The and L. Dorland and M. Duran and P.E. Jira and J.A.M. Smeitink and R.A. Wevers and R.J.A. Wanders",

year = "1998",

language = "Undefined/Unknown",

volume = "63",

pages = "329--338",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

}

TY - JOUR

T1 - Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

AU - Waterham, H.R.

AU - Wijburg, F.A.

AU - Hennekam, R.C.M.

AU - Vreken, P.

AU - Poll-The, B.T.

AU - Dorland, L.

AU - Duran, M.

AU - Jira, P.E.

AU - Smeitink, J.A.M.

AU - Wevers, R.A.

AU - Wanders, R.J.A.

PY - 1998

Y1 - 1998

KW - Econometric and Statistical Methods: General

KW - Genetics

KW - Geneeskunde(GENK)

KW - Algemeen onderzoek

M3 - Article

SN - 0002-9297

VL - 63

SP - 329

EP - 338

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

ER -