PMC Links for Nucleotide (Select 1519315534) - PMC

Select item 55581871.

Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine

Henry J. Martell, Kathie A. Wong, Juan F. Martin, Ziyan Kassam, Kay Thomas, Mark N. Wass

BMC Genomics. 2017; 18(Suppl 5): 550. Published online 2017 Aug 11. doi: 10.1186/s12864-017-3913-1

PMCID:: PMC5558187

Select item 17125272.

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

L Bisceglia, M J Calonge, A Totaro, L Feliubadaló, S Melchionda, J García, X Testar, M Gallucci, A Ponzone, L Zelante, A Zorzano, X Estivill, P Gasparini, V Nunes, M Palacín

Am J Hum Genet. 1997 Mar; 60(3): 611–616.

PMCID:: PMC1712527

Summary Page Browse PDF–1.0M

Select item 17124923.

Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q.

R Wartenfeld, E Golomb, G Katz, S J Bale, B Goldman, M Pras, D L Kastner, E Pras

Am J Hum Genet. 1997 Mar; 60(3): 617–624.

PMCID:: PMC1712492

Summary Page Browse PDF–1.2M

Select item 257484.

Luminal Heterodimeric Amino Acid Transporter Defective in Cystinuria

Rahel Pfeiffer, Jan Loffing, Grégoire Rossier, Christian Bauch, Christian Meier, Thomas Eggermann, Dominique Loffing-Cueni, Lukas C. Kühn, François Verrey

Mol Biol Cell. 1999 Dec; 10(12): 4135–4147. doi: 10.1091/mbc.10.12.4135

PMCID:: PMC25748

Abstract Article PDF–590K

Select item 70402295.

Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9

Chuangye Li, Yongjia Yang, Yu Zheng, Fang Shen, Li Liu, Yanfang Li, Liping Li, Yaowang Zhao

Front Genet. 2020; 11: 74. Published online 2020 Feb 18. doi: 10.3389/fgene.2020.00074

PMCID:: PMC7040229

Abstract Article PDF–2.9M

Select item 63187746.

High-frequency actionable pathogenic exome variants in an average-risk cohort

Shannon Rego, Orit Dagan-Rosenfeld, Wenyu Zhou, M. Reza Sailani, Patricia Limcaoco, Elizabeth Colbert, Monika Avina, Jessica Wheeler, Colleen Craig, Denis Salins, Hannes L. Röst, Jessilyn Dunn, Tracey McLaughlin, Lars M. Steinmetz, Jonathan A. Bernstein, Michael P. Snyder

Cold Spring Harb Mol Case Stud. 2018 Dec; 4(6): a003178. doi: 10.1101/mcs.a003178