{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T12:01:15Z","timestamp":1778155275497,"version":"3.51.4"},"reference-count":16,"publisher":"S. Karger AG","issue":"4-5","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"},{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Kidney Blood Press Res"],"published-print":{"date-parts":[[2013]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background: &lt;\/i&gt;&lt;\/b&gt;Fabry disease (FD) is a rare disease due to an X-linked recessive inborn error of glycosphingolipid metabolism resulting from the mutations of the \u03b1-galactosidase A (\u03b1-gal A) gene. FD is rare in Chinese and the data on clinic and genetic features of FD is still limited. &lt;b&gt;&lt;i&gt;Methods: &lt;\/i&gt;&lt;\/b&gt;In this study, the \u03b1-gal A gene of a Chinese family diagnosed with FD was analyzed for mutations and the genetic features of FD in this family were presented. &lt;b&gt;&lt;i&gt;Results: &lt;\/i&gt;&lt;\/b&gt;The \u03b1-gal A activity of the proband in this family was 0.03 nmol\/ml\/h in the whole blood. By PCR amplification and sequencing of the \u03b1-gal A gene exons, a single C-to-T transition was identified in codon 112 of exon 2. This C-to-T transition, mapping to position 334 in the cDNA of the \u03b1-gal A gene, was a missense mutation predicting a substitution of arginine to cysteine (p.R112C), which disrupts the normal activity of \u03b1-gal A enzyme. No further mutations were found in other exons of the \u03b1-gal A gene. In contrast to previous reports, in this family, all of the five male patients developed end-stage renal failure due to this missense mutation. &lt;b&gt;&lt;i&gt;Conclusions: &lt;\/i&gt;&lt;\/b&gt;These findings suggest that the missense mutation, p.R112C, in \u03b1-gal A gene ablates its activity and results in the development of FD with the renal damage.<\/jats:p>","DOI":"10.1159\/000350147","type":"journal-article","created":{"date-parts":[[2013,6,14]],"date-time":"2013-06-14T08:36:00Z","timestamp":1371198960000},"page":"221-228","source":"Crossref","is-referenced-by-count":2,"title":["A Missense Mutation of the \u03b1-Galactosidase A Gene in a Chinese Family of Fabry Disease with Renal Failure"],"prefix":"10.1159","volume":"37","author":[{"given":"Chunli","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feng","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Xiong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2013,6,8]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196705252762101"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.semnephrol.2004.06.024"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-200203000-00003"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007\/BF00868342"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/17.8.3301"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007\/s10157-011-0486-1"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007\/s004030050196"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(02)00012-4"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.09.013"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1219"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2005.01016.x"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1023\/A:1012475908718"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1097\/00004691-200212000-00011"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.pain.2009.07.025"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/190372a0"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-30"}],"container-title":["Kidney and Blood Pressure Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/350147","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/350147","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/350147","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:15:21Z","timestamp":1745432121000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000350147"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"references-count":16,"journal-issue":{"issue":"4-5","published-online":{"date-parts":[[2013,11,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000350147","archive":["Portico"],"relation":{},"ISSN":["1420-4096","1423-0143"],"issn-type":[{"value":"1420-4096","type":"print"},{"value":"1423-0143","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013]]}}}