Abstract: We previously reported two novel mutations: M1 (
C-to-T change at nucleotide 1856 [proser at codon 15]) and M3 (
G-to-A change at nucleotide 1898 [gly-ser at codon 29]) in addition to two well-described mutations: M2 (
G-to-A change at nucleotide 1896 [trp-stop at codon 28]); and M4 (
G-to-A change at nucleotide 1899 [gly-asp at codon 29]) in Chinese patients.