The insertion of a neomycin resistance gene into the first exon resulted in the generation of a truncated protein of 121 amino acids, missing less over 90% the protein including the transcription activating domain and the glutamine stretch. (J:98889)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count