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Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
Hannan FM, Howles SA, Rogers A, Cranston T, Gorvin CM, Babinsky VN, Reed AA, Thakker CE, Bockenhauer D, Brown RS, Connell JM, Cook J, Darzy K, Ehtisham S, Graham U, Hulse T, Hunter SJ, Izatt L, Kumar D, McKenna MJ, McKnight JA, Morrison PJ, Mughal MZ, O'Halloran D, Pearce SH, Porteous ME, Rahman M, Richardson T, Robinson R, Scheers I, Siddique H, Van't Hoff WG, Wang T, Whyte MP, Nesbit MA, Thakker RV. Hannan FM, et al. Among authors: van t hoff wg. Hum Mol Genet. 2015 Sep 15;24(18):5079-92. doi: 10.1093/hmg/ddv226. Epub 2015 Jun 16. Hum Mol Genet. 2015. PMID: 26082470 Free PMC article.
Characterization of renal chloride channel (CLCN5) mutations in Dent's disease.
Yamamoto K, Cox JPDT, Friedrich T, Christie PT, Bald M, Houtman PN, Lapsley MJ, Patzer L, Tsimaratos M, Van't Hoff WG, Yamaoka K, Jentsch TJ, Thakker RV. Yamamoto K, et al. J Am Soc Nephrol. 2000 Aug;11(8):1460-1468. doi: 10.1681/ASN.V1181460. J Am Soc Nephrol. 2000. PMID: 10906159
Liver transplantation for methylmalonic acidaemia.
van't Hoff W, McKiernan PJ, Surtees RA, Leonard JV. van't Hoff W, et al. Eur J Pediatr. 1999 Dec;158 Suppl 2:S70-4. doi: 10.1007/pl00014326. Eur J Pediatr. 1999. PMID: 10603103
110 results