Article
Identification of two single nucleotide polymorphisms in exon 8 of PAX2.
Molecular genetics and metabolism - 1 Dec 1999
Shim H H, Nakamura B N, Cantor R M, Schimmenti L A
Abstract excerpt
We estimate the allele frequencies of two single nucleotide polymorphisms (1410 C --> T) and (1521 A --> C) in the coding region of PAX2. The coding region single nucleotide polymorphisms (cSNPs) were identified by sequencing of amplimers of PAX2 exon 8 exhibiting variant migration patterns in the course of genomic DNA mutation screening from patients with renal-coloboma syndrome. Allele frequencies of the two...
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