Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA

G. A. Jansen, S. Ferdinandusse, O. H. Skjeldal, O. Stokke, C. J. de Groot, C. Jakobs, R. J. Wanders

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

10 Citations (Scopus)

Original language	English
Pages (from-to)	288-291
Journal	Journal of Inherited Metabolic Disease
Volume	21
Issue number	3
DOIs	https://doi.org/10.1023/A:1005388710197
Publication status	Published - 1998

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title = "Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA",

author = "Jansen, {G. A.} and S. Ferdinandusse and Skjeldal, {O. H.} and O. Stokke and {de Groot}, {C. J.} and C. Jakobs and Wanders, {R. J.}",

year = "1998",

doi = "https://doi.org/10.1023/A:1005388710197",

language = "English",

volume = "21",

pages = "288--291",

journal = "Journal of Inherited Metabolic Disease",

issn = "0141-8955",

publisher = "Springer Netherlands",

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TY - JOUR

T1 - Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA

AU - Jansen, G. A.

AU - Ferdinandusse, S.

AU - Skjeldal, O. H.

AU - Stokke, O.

AU - de Groot, C. J.

AU - Jakobs, C.

AU - Wanders, R. J.

PY - 1998

Y1 - 1998

U2 - https://doi.org/10.1023/A:1005388710197

DO - https://doi.org/10.1023/A:1005388710197

M3 - Article

C2 - 9686377

SN - 0141-8955

VL - 21

SP - 288

EP - 291

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 3

ER -