Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias11The nomenclature used in this paper is based on that recommended by Antonarakis SE, and the Nomenclature Working Group (1998): Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11:1–3, 1998, where “c” denotes cDNA sequence and nucleotide numbering uses the “A” of the ATG translation initiation start site as +1.
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