Genomic PCR established that exons 7 and 8 were absent. This results in an in-frame deletion of 94 amino acids in the N-terminal LIVBP-like domain. (J:84411)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count