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CPT1A ARCTIC VARIANT

MedGen UID:
1669181
•Concept ID:
C4749136
•
Finding
OMIM®: 600528

Recent clinical studies

Etiology

Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A.
Gessner BD, Wood T, Johnson MA, Richards CS, Koeller DM
Genet Med 2016 Sep;18(9):933-9. Epub 2016 Jan 28 doi: 10.1038/gim.2015.197. PMID: 26820065Free PMC Article

Prognosis

Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A.
Gessner BD, Wood T, Johnson MA, Richards CS, Koeller DM
Genet Med 2016 Sep;18(9):933-9. Epub 2016 Jan 28 doi: 10.1038/gim.2015.197. PMID: 26820065Free PMC Article

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