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doi:10.1093/bmb/ldy035

The mutations comprise of 57 amino acid substitutions (65.5%), one complete gene deletion (3, 306), one complete exon 1 deletion (16), one substitution at stop codon 255 resulting in a Serine residue (336), ten small deletions resulting in either a premature stop codon or in an in-frame amino acid residue deletion, four small insertions (335), nine nonsense mutations and four splice site mutations, resulting in aberrant splicing [Figure 12]