Associated Papers
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
41331868 (PubMed )
Supplement: 40246_2025_855_MOESM1_ESM.xlsx › Table_S1.
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases.
Hong SE et al.
Journal of Medical Genetics, 2022
35387801 (PubMed )
Supplement: jmedgenet-2021-108307supp001.xlsx › S2._PathogenicVar_WES_RNAseq
Charcot-Marie-Tooth Disease With Episodic Rhabdomyolysis Due to Two Novel Mutations in the β Subunit of Mitochondrial Trifunctional Protein and Effective Response to Modified Diet Therapy.
Guan Y et al.
Frontiers in Neurology, 2021
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
Kang E et al.
Bmc Pediatrics, 2018
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.
Boutron A et al.
Molecular Genetics and Metabolism, 2011
Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency.
Park HD et al.
Annals of Clinical and Laboratory Science, 2009
Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
Choi JH et al.
International Journal of Molecular Medicine, 2007
HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases.
Lu Y et al.
Clinical Neuropathology, 0
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