CRISPR/cas9 genome editing using guide RNA (GGTAGTCTACGCTCACAGCA) to target exon 4. Donor DNAs were created encoding an H228R mutation (CAT to CGT, histidine to arginine) as well as a silent mutation S229S (AGC to TCC). (J:94077)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count