Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type I

M. Nijhuis, R. Berger, R. van Leeuwen, P.J. Schipper, T.M.C. de Jong, P. Collis

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

Original language	Undefined/Unknown
Pages (from-to)	653-658
Number of pages	6
Journal	American Journal of Human Genetics
Volume	55
Publication status	Published - 1994

Keywords

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title = "Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type I",

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

author = "M. Nijhuis and R. Berger and {van Leeuwen}, R. and P.J. Schipper and {de Jong}, T.M.C. and P. Collis",

note = "keypublication",

year = "1994",

language = "Undefined/Unknown",

volume = "55",

pages = "653--658",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

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TY - JOUR

T1 - Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type I

AU - Nijhuis, M.

AU - Berger, R.

AU - van Leeuwen, R.

AU - Schipper, P.J.

AU - de Jong, T.M.C.

AU - Collis, P.

N1 - keypublication

PY - 1994

Y1 - 1994

KW - Econometric and Statistical Methods: General

KW - Geneeskunde (GENK)

KW - Genetics

KW - Geneeskunde(GENK)

KW - Algemeen onderzoek

M3 - Article

SN - 0002-9297

VL - 55

SP - 653

EP - 658

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

ER -