Mutations | Number of patients identified in this study | Reference | |||
---|---|---|---|---|---|
Exon (e)/Intron (i) | Nucleotide | Amino acid | Homozygous | Heterozygous | |
e2 | c.289C > T | p.Q97X | 1 | - | This study |
e2 | c.299_311dup13 | p.R105GfsX26 | 2a | - | Dhar et al., 2009 [27] |
i3 | c.391 + 15G > T | p.(?) | 1 | - | This study |
e5 | c.506G > A | p.C169Y | 1 | - | Caldeira Araujo et al., 2005 [63] |
e6 | c.577C > T | p.Q193X | 1 | - | This study |