DNA sequencing of exons from genomic DNA revealed a single point mutation in the Mpl gene at codon 40. The mutation is a T-to-C transition yielding an amino acid change from a conserved cysteine to an arginine. (J:146577)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count