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Article

The genetic diversity of cystinuria in a UK population of patients.

BJU international - 1 Jul 2015

Wong Kathie A, Mein Rachael, Wass Mark, Flinter Frances, Pardy Caroline, Bultitude Matthew, Thomas Kay

Abstract excerpt

OBJECTIVE: To examine the genetic mutations in the first UK cohort of patients with cystinuria with preliminary genotype/phenotype correlation. PATIENTS AND METHODS: DNA sequencing and multiplex ligation-dependent probe amplification (MLPA) were used to identify the mutations in 74 patients in a specialist cystinuria clinic in the UK. Patients with type A cystinuria were classified into two groups: Group M...

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Identifiers

PMID: 25109415
DOI: 10.1111/bju.12894

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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