Tame Prinjective Type and Tits Form of Two-Peak Posets II

Linkage of type II and type III cystinur

Linkage of type II and type III cystinuria to 19q13.1: Codominant inheritance of two cystinuric alleles at 19q13.1 produces an extreme stone-forming phenotype

✍ Stoller, Marshall L.; Bruce, Jeremy E.; Bruce, Carol A.; Foroud, Tatiana; Kirkwo 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 46 KB

Cystinuria, a renal tubule disease affecting urinary cystine excretion with or without kidney stone formation, previously was mapped to chromosome region 2p.21. Mutations in the gene SLC3A1 or NBAT, the reported candidate gene for cystinuria at 2p.21, have been demonstrated in individuals with the a