A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.

Authors:
Ferdinandusse S; Te Brinke H; Ruiter JPN; Haasjes J; Oostheim W and 6 more

Journal:
Hum Mutat

Publication Year: 2019

DOI:
10.1002/humu.23839

PMCID:
PMC6790604

PMID:
31187905

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Journal Information

Full Title: Hum Mutat

Abbreviation: Hum Mutat

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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