The mutation was characterized by Southern blot as either a chromosomal inversion or an insertion of greater than 4kb in the gene. PCR analysis revealed that most of exon 3 is intact, but the exact break points are not established. (J:10774, J:10998)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count