{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T21:00:15Z","timestamp":1778274015221,"version":"3.51.4"},"reference-count":30,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2012,5,1]],"date-time":"2012-05-01T00:00:00Z","timestamp":1335830400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,5,1]],"date-time":"2012-05-01T00:00:00Z","timestamp":1335830400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Archives of Medical Research"],"published-print":{"date-parts":[[2012,5]]},"DOI":"10.1016\/j.arcmed.2012.05.001","type":"journal-article","created":{"date-parts":[[2012,5,16]],"date-time":"2012-05-16T06:32:41Z","timestamp":1337149961000},"page":"298-304","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"title":["Identification of Two Novel Mutations in the SLC4A1 Gene in Two Unrelated Chinese Families with Distal Renal Tubular Acidosis"],"prefix":"10.1016","volume":"43","author":[{"given":"Zeng","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kang-Xiang","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin-Wei","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen-Zhen","family":"Fu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hua","family":"Yue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang-Qing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhen-Lin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"suppl 16","key":"10.1016\/j.arcmed.2012.05.001_bib1","first-page":"S57","article-title":"Familial renal tubular acidosis","volume":"23","author":"Alper","year":"2010","journal-title":"J Nephrol"},{"key":"10.1016\/j.arcmed.2012.05.001_bib2","doi-asserted-by":"crossref","first-page":"1693","DOI":"10.1172\/JCI119694","article-title":"Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene","volume":"100","author":"Bruce","year":"1997","journal-title":"J Clin Invest"},{"key":"10.1016\/j.arcmed.2012.05.001_bib3","doi-asserted-by":"crossref","first-page":"2173","DOI":"10.1172\/JCI4836","article-title":"Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A","volume":"102","author":"Tanphaichitr","year":"1998","journal-title":"J Clin Invest"},{"key":"10.1016\/j.arcmed.2012.05.001_bib4","first-page":"813","article-title":"Anion exchanger 1 in human kidney and oncocytoma differs from erythroid AE1 in its NH2 terminus","volume":"265","author":"Kollert-Jons","year":"1993","journal-title":"Am J Physiol"},{"key":"10.1016\/j.arcmed.2012.05.001_bib5","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1038\/79208","article-title":"Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing","volume":"26","author":"Smith","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/j.arcmed.2012.05.001_bib6","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1038\/5022","article-title":"Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness","volume":"21","author":"Karet","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/j.arcmed.2012.05.001_bib7","doi-asserted-by":"crossref","first-page":"6337","DOI":"10.1073\/pnas.95.11.6337","article-title":"Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis","volume":"95","author":"Karet","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.arcmed.2012.05.001_bib8","first-page":"1602","article-title":"Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3","volume":"96","author":"Ribeiro","year":"2000","journal-title":"Blood"},{"key":"10.1016\/j.arcmed.2012.05.001_bib9","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1042\/bj3500041","article-title":"Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells","volume":"350","author":"Bruce","year":"2000","journal-title":"Biochem J"},{"key":"10.1016\/j.arcmed.2012.05.001_bib10","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1053\/ajkd.2002.33909","article-title":"Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene","volume":"40","author":"Yenchitsomanus","year":"2002","journal-title":"Am J Kidney Dis"},{"key":"10.1016\/j.arcmed.2012.05.001_bib11","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1007\/s10038-003-0059-6","article-title":"Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population","volume":"48","author":"Yenchitsomanus","year":"2003","journal-title":"J Hum Genet"},{"key":"10.1016\/j.arcmed.2012.05.001_bib12","doi-asserted-by":"crossref","first-page":"40960","DOI":"10.1074\/jbc.M405356200","article-title":"Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1)","volume":"279","author":"Kittanakom","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1016\/j.arcmed.2012.05.001_bib13","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1007\/s00467-005-2061-z","article-title":"Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations","volume":"21","author":"Choo","year":"2006","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.arcmed.2012.05.001_bib14","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1042\/BJ20091525","article-title":"Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis","volume":"426","author":"Chu","year":"2010","journal-title":"Biochem J"},{"key":"10.1016\/j.arcmed.2012.05.001_bib15","doi-asserted-by":"crossref","first-page":"92","DOI":"10.3109\/09687681003588020","article-title":"Impaired trafficking and intracellular retention of mutant kidney anion exchanger 1 proteins (G701D and A858D) associated with distal renal tubular acidosis","volume":"27","author":"Ungsupravate","year":"2010","journal-title":"Mol Membr Biol"},{"key":"10.1016\/j.arcmed.2012.05.001_bib16","doi-asserted-by":"crossref","unstructured":"Vasuvattakul S. Molecular approach for distal renal tubular acidosis associated AE1 mutations. Electrolyte Blood Press 2010;8:25\u201331.","DOI":"10.5049\/EBP.2010.8.1.25"},{"key":"10.1016\/j.arcmed.2012.05.001_bib17","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1007\/s12020-010-9340-6","article-title":"A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype","volume":"37","author":"Shao","year":"2010","journal-title":"Endocrine"},{"key":"10.1016\/j.arcmed.2012.05.001_bib18","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1159\/000274484","article-title":"Distal renal tubular acidosis in Filipino children, caused by mutations of the anion-exchanger SLC4A1 (AE1, Band 3) gene","volume":"114","author":"Anacleto","year":"2010","journal-title":"Nephron Physiol"},{"key":"10.1016\/j.arcmed.2012.05.001_bib19","doi-asserted-by":"crossref","first-page":"13833","DOI":"10.1074\/jbc.M400188200","article-title":"A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells","volume":"279","author":"Rungroj","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1016\/j.arcmed.2012.05.001_bib20","doi-asserted-by":"crossref","first-page":"1361","DOI":"10.1542\/peds.112.6.1361","article-title":"A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis","volume":"112","author":"Cheidde","year":"2003","journal-title":"Pediatrics"},{"key":"10.1016\/j.arcmed.2012.05.001_bib21","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1002\/ajh.21836","article-title":"Hemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1\/AE1 mutation A858D","volume":"85","author":"Shmukler","year":"2010","journal-title":"Am J Hematol"},{"key":"10.1016\/j.arcmed.2012.05.001_bib22","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1038\/ki.2009.258","article-title":"Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis","volume":"76","author":"Chang","year":"2009","journal-title":"Kidney Int"},{"key":"10.1016\/j.arcmed.2012.05.001_bib23","doi-asserted-by":"crossref","first-page":"5380","DOI":"10.1182\/blood-2007-07-099473","article-title":"Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A","volume":"111","author":"Toye","year":"2008","journal-title":"Blood"},{"key":"10.1016\/j.arcmed.2012.05.001_bib24","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1016\/S0272-6386(96)90530-2","article-title":"Underlying defects in distal renal tubular acidosis: new understandings","volume":"27","author":"Batlle","year":"1996","journal-title":"Am J Kidney Dis"},{"key":"10.1016\/j.arcmed.2012.05.001_bib25","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1053\/j.ajkd.2004.03.033","article-title":"Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis","volume":"44","author":"Sritippayawan","year":"2004","journal-title":"Am J Kidney Dis"},{"key":"10.1016\/j.arcmed.2012.05.001_bib26","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"10.1016\/j.arcmed.2012.05.001_bib27","doi-asserted-by":"crossref","first-page":"44949","DOI":"10.1074\/jbc.M308660200","article-title":"Deficient HCO3- transport in an AE1 mutant with normal Cl- transport can be rescued by carbonic anhydrase II presented on an adjacent AE1 protomer","volume":"278","author":"Dahl","year":"2003","journal-title":"J Biol Chem"},{"key":"10.1016\/j.arcmed.2012.05.001_bib28","doi-asserted-by":"crossref","first-page":"33423","DOI":"10.1074\/jbc.M110.144261","article-title":"Cell surface rescue of kidney anion exchanger 1 mutants by disruption of chaperone interactions","volume":"285","author":"Patterson","year":"2010","journal-title":"J Biol Chem"},{"key":"10.1016\/j.arcmed.2012.05.001_bib29","doi-asserted-by":"crossref","first-page":"28430","DOI":"10.1074\/jbc.273.43.28430","article-title":"Carbonic anhydrase II binds to the carboxyl terminus of human band 3, the erythrocyte C1-\/HCO3- exchanger","volume":"273","author":"Vince","year":"1998","journal-title":"J Biol Chem"},{"key":"10.1016\/j.arcmed.2012.05.001_bib30","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1034\/j.1600-0854.2003.00123.x","article-title":"Carboxyl-terminal truncations of human anion exchanger impair its trafficking to the plasma membrane","volume":"4","author":"Cordat","year":"2003","journal-title":"Traffic"}],"container-title":["Archives of Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0188440912001269?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0188440912001269?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T19:39:51Z","timestamp":1759261191000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0188440912001269"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5]]},"references-count":30,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,5]]}},"alternative-id":["S0188440912001269"],"URL":"https:\/\/doi.org\/10.1016\/j.arcmed.2012.05.001","relation":{},"ISSN":["0188-4409"],"issn-type":[{"value":"0188-4409","type":"print"}],"subject":[],"published":{"date-parts":[[2012,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification of Two Novel Mutations in the SLC4A1 Gene in Two Unrelated Chinese Families with Distal Renal Tubular Acidosis","name":"articletitle","label":"Article Title"},{"value":"Archives of Medical Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.arcmed.2012.05.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 IMSS. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}