Nucleotide sequencing of Taq-generated RT-PCR products showed that this allele comprises a T-to-G transversion, resulting in a leucine to arginine mutation at position 18 (43 in pre-protein) (p.L18R, p.L43R). (J:80496)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count