The absence of exons 3 and 4 was established by PCR of genomic DNA and subsequent sequencing. This lead to premature termination at residue 91 in exon 5. (J:84411)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count