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. 2002 Apr 8;70(5):1299–1304. doi: 10.1086/340450

Table 1.

Summary of RNASEL Sequence Variants Found in 66 Patients with HPC in the SSCP Analysis

Exon Codon Positiona; Nucleotide Change (Codon/Amino Acid Change)
2 59b 175; G→A (GGC→AGC/Gly→Ser)
2 265b 793; G→T (GAG→TAG/Glu→Stop)
2 393 1179; G→A
2 406 1217; C→T (TCT→TTT/Ser→Phe)
2 462b 1385; G→A (CGA→CAA/Arg→Gln)
4 541b 1623; T→G (GAT→GAG/Asp→Glu)
7 724 2172; G→A
a

Numbering is according to the cDNA starting at the A in the start codon.

b

Also reported by Carpten et al. (2002).