Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a new method to identify the G1528C mutation in genomic DNA showing its high frequency (approximately 90%) and identification of a new mutation (T2198C)

L. IJlst; J. P. Ruiter; J. Vreijling; R. J. Wanders

doi:https://doi.org/10.1007/BF01799420

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a new method to identify the G1528C mutation in genomic DNA showing its high frequency (approximately 90%) and identification of a new mutation (T2198C)

L. IJlst, J. P. Ruiter, J. Vreijling, R. J. Wanders

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

13 Citations (Scopus)

Original language	English
Pages (from-to)	165-168
Journal	Journal of Inherited Metabolic Disease
Volume	19
Issue number	2
DOIs	https://doi.org/10.1007/BF01799420
Publication status	Published - 1996

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https://doi.org/10.1007/BF01799420

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@article{5b1ed8ec8f2e4b19bcd1f6686618c5c1,

title = "Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a new method to identify the G1528C mutation in genomic DNA showing its high frequency (approximately 90%) and identification of a new mutation (T2198C)",

author = "L. IJlst and Ruiter, {J. P.} and J. Vreijling and Wanders, {R. J.}",

year = "1996",

doi = "https://doi.org/10.1007/BF01799420",

language = "English",

volume = "19",

pages = "165--168",

journal = "Journal of Inherited Metabolic Disease",

issn = "0141-8955",

publisher = "Springer Netherlands",

number = "2",

}

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a new method to identify the G1528C mutation in genomic DNA showing its high frequency (approximately 90%) and identification of a new mutation (T2198C). / IJlst, L.; Ruiter, J. P.; Vreijling, J. et al.
In: Journal of Inherited Metabolic Disease, Vol. 19, No. 2, 1996, p. 165-168.

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

TY - JOUR

T1 - Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a new method to identify the G1528C mutation in genomic DNA showing its high frequency (approximately 90%) and identification of a new mutation (T2198C)

AU - IJlst, L.

AU - Ruiter, J. P.

AU - Vreijling, J.

AU - Wanders, R. J.

PY - 1996

Y1 - 1996

U2 - https://doi.org/10.1007/BF01799420

DO - https://doi.org/10.1007/BF01799420

M3 - Article

C2 - 8739956

SN - 0141-8955

VL - 19

SP - 165

EP - 168

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 2

ER -