A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency

RJP Smeets, JAM Smeitink, BA Semmekrot, Jasper Scholte, RJA Wanders, LPWJ van den Heuvel

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@article{8048c93ad0024402a37f9c64ef79047c,

title = "A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency",

author = "RJP Smeets and JAM Smeitink and BA Semmekrot and Jasper Scholte and RJA Wanders and {van den Heuvel}, LPWJ",

year = "2003",

doi = "10.1007/s100380300001",

language = "Undefined/Unknown",

volume = "48",

pages = "8--13",

journal = "Journal of Human Genetics",

issn = "1434-5161",

publisher = "Springer Nature",

}

TY - JOUR

T1 - A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency

AU - Smeets, RJP

AU - Smeitink, JAM

AU - Semmekrot, BA

AU - Scholte, Jasper

AU - Wanders, RJA

AU - van den Heuvel, LPWJ

PY - 2003

Y1 - 2003

U2 - 10.1007/s100380300001

DO - 10.1007/s100380300001

M3 - Article

SN - 1434-5161

VL - 48

SP - 8

EP - 13

JO - Journal of Human Genetics

JF - Journal of Human Genetics

ER -