Associated Papers
A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.
Li Q et al.
Bmc Medical Genomics, 2022
35864542 (PubMed )
Supplement: 12920_2022_1315_MOESM2_ESM.xlsx › RawData
Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.
Lei P et al.
Plos One, 2022
36350814 (PubMed )
Supplement: pone.0276233.s004.xlsx › RawData
Refsum Disease Presenting with a Late-Onset Leukodystrophy.
Bompaire F et al.
Jimd Reports, 2015
Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
Jansen GA et al.
Human Mutation, 2004
Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.
Jansen GA et al.
Human Molecular Genetics, 2000
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