Associated Papers
Functional and molecular studies in primary carnitine deficiency.
Frigeni M et al.
Human Mutation, 2017
Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.
Visschedijk MC et al.
Plos One, 2016
27490946 (PubMed )
Supplement: pone.0159609.s002.xlsx › Results_Discovery_phase_I
Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect.
Mutlu-Albayrak H et al.
Case Reports in Genetics, 2015
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