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Mutations in the holocarboxylase synthetase gene HLCS.
Hum Mutat. 2005 Oct;26(4):285-90. doi: 10.1002/humu.20204.
Hum Mutat. 2005.
PMID: 16134170
Review.
Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.
Lund AM, Joensen F, Hougaard DM, Jensen LK, Christensen E, Christensen M, Nørgaard-Petersen B, Schwartz M, Skovby F.
Lund AM, et al.
J Inherit Metab Dis. 2007 Jun;30(3):341-9. doi: 10.1007/s10545-007-0527-9. Epub 2007 Apr 6.
J Inherit Metab Dis. 2007.
PMID: 17417720
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A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.
Tang NL, Hui J, Yong CK, Wong LT, Applegarth DA, Vallance HD, Law LK, Fung SL, Mak TW, Sung YM, Cheung KL, Fok TF.
Tang NL, et al.
Clin Biochem. 2003 Mar;36(2):145-9. doi: 10.1016/s0009-9120(02)00432-0.
Clin Biochem. 2003.
PMID: 12633764
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