No. of families | Location | Mutation | Reference |
---|---|---|---|
Previously described mutations are included and referenced. The boundaries of the exon detetions could not be confidently mapped due to the large number of Alu repeats. | |||
4 | Exon II | t566c | 10 |
12 | Intron VI | a14011g polymorphism | 10 |
8 | Exon VIII | Val458Met polymorphism | 20 |
1 | Exon VIII | Arg444His | 18 |
1 | Intron VI/exon VII junction | g14030a splice site | 10 |
1 | Exon III | 4bp deletion caac (2458–2461bp) | New |
2 | Exon VI | a8755g (Thr285Ala) | New |
1 | Exons IV, V, VI | Del IV,V,VI | |
2 | Exons VII, VIII | Del VII,VIII |