PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Annals of Pediatric Endocrinology & Metabolism10.6065/apem.2019.24.1.64201924164-67Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case reportSeok Jin Kang, Rosie Lee, Heung Sik Kimhttp://e-apem.org/upload/pdf/apem-2019-24-1-64.pdf, http://e-apem.org/journal/view.php?doi=10.6065/apem.2019.24.1.64, http://e-apem.org/upload/pdf/apem-2019-24-1-64.pdf
Hormone Research in Paediatrics10.1159/0004928992018914278-284Rare Cause of Infantile Hypercalcemia: A Novel Mutation in the SLC34A1 GeneErdal Kurnaz, Şenay Savaş Erdeve, Semra Çetinkaya, Zehra Aycanhttps://www.karger.com/Article/Pdf/492899, https://www.karger.com/Article/Pdf/492899
BMC Pediatrics10.1186/s12887-019-1478-72019191Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case reportFengdan Yu, Junyi Wang, Xiaojing Xuhttp://link.springer.com/content/pdf/10.1186/s12887-019-1478-7.pdf, http://link.springer.com/article/10.1186/s12887-019-1478-7/fulltext.html, http://link.springer.com/content/pdf/10.1186/s12887-019-1478-7.pdf
PM&R10.1016/j.pmrj.2014.08.492201469S217Poster 97 An Unusual Case of Limb Girdle Muscular Dystrophy 2A Carrying a Novel Heterozygous Calpain-3 Gene Mutation: A Case ReportJoshua Rothenberg, Heather Seredhttps://api.elsevier.com/content/article/PII:S1934148214008636?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S1934148214008636?httpAccept=text/plain
Journal of the Endocrine Society10.1210/js.2019-mon-25520193Supplement_1MON-255 A Novel Variant of SLC34A1 Gene in an Infant with Idiopathic Infantile HypercalcemiaJungeun Moon, Gi-Min Lee, Su-Jeong Lee, Cheol-Woo Kohttps://academic.oup.com/jes/article/doi/10.1210/js.2019-MON-255/5484557
Journal of International Medical Research10.1177/03000605198961462020483030006051989614Heterozygous mutation of SLC34A1 in patients with hypophosphatemic kidney stones and osteoporosis: a case reportYuping Ma, Haihong Lv, Jue Wang, Jiaojiao Tanhttp://journals.sagepub.com/doi/pdf/10.1177/0300060519896146, http://journals.sagepub.com/doi/full-xml/10.1177/0300060519896146, http://journals.sagepub.com/doi/pdf/10.1177/0300060519896146
Dermatologica Sinica10.1016/j.dsi.2018.01.0032018364200-202Cerebrotendinous xanthomatosis-a case report with novel compound heterozygous mutation of CYP27A1 geneJeng Yuan, Pi-Shan Sung, Julia Yu-Yun Lee, Sheau-Chiou Chaohttps://api.elsevier.com/content/article/PII:S102781171730201X?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S102781171730201X?httpAccept=text/plain
Biophysical Journal10.1016/j.bpj.2015.03.0542015108102465-2480Identification of the First Sodium Binding Site of the Phosphate Cotransporter NaPi-IIa (SLC34A1)Cristina Fenollar-Ferrer, Ian C. Forster, Monica Patti, Thomas Knoepfel, Andreas Werner, Lucy R. Forresthttps://api.elsevier.com/content/article/PII:S0006349515003422?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0006349515003422?httpAccept=text/plain
The Journal of Physiology10.1113/jphysiol.2005.0867772005567127-32The role of NHERF-1 in the regulation of renal proximal tubule sodium-hydrogen exchanger 3 and sodium-dependent phosphate cotransporter 2aEdward J. Weinman, Rochelle Cunningham, James B. Wade, Shirish Shenolikarhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1113%2Fjphysiol.2005.086777, http://onlinelibrary.wiley.com/wol1/doi/10.1113/jphysiol.2005.086777/fullpdf
10.21203/rs.3.rs-38184/v12020A Novel Compound Heterozygous Mutation in the WFS1 Gene (C.1997 G>A and C.2113_2114 ins T) Causes wolfram Syndrome: A Case ReportReyida Aishajiang, Cheng Li, Bo-Tao Shen, Jian Sun, Wei Zhaohttps://www.researchsquare.com/article/rs-38184/v1, https://www.researchsquare.com/article/rs-38184/v1.html