Sequence analysis of RT-PCR products identified a C-to-T base change at coding nucleotide 6829 resulting in a stop codon at arginine codon 2277 (p.R2277*). (J:33734)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count