Reported disease-causing mutations of human HAD gene.
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aNumber of the mutant residue was revised with the exclusion of transit peptide as compared with original literature.bThis deletion mutation affected RNA splicing and lead to a mRNA lacking exon 5.cThis mutation locates in splice site and the resulting mRNA were shown to comprise abnormal exon 7 sequence.dThe codon encoding Arg (CGA) was mutated to STOP codon (TGA) at position 224.eHyperinsulinemic hypoglycemia.fHyperinsulinism.
创建时间：
2015-12-02
