这种突变通过Southern blot被鉴定为染色体倒位或基因区段大于4kb的插入。PCR分析显示,大部分exon 3区域保持完整,但确切的断裂点尚未确定。(来源:J:10774, J:10998)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count