Associated Papers
Functional and structural analysis of a novel splice site HMBS variant in a Chinese AIP patient.
Wang X et al.
Frontiers in Genetics, 2023
38192441 (PubMed )
Supplement: Table1.XLSX › Sheet2
Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria.
Chen B et al.
Journal of Inherited Metabolic Disease, 2019
Novel human pathological mutations. Gene symbol: SCN1A. Disease: Myoclonic epilepsy of infancy.
Rocca FE et al.
Human Genetics, 2010
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