{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T15:14:16Z","timestamp":1791126856255,"version":"4.1.0"},"reference-count":16,"publisher":"Hindawi Limited","issue":"1","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":4274,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2004,1]]},"DOI":"10.1002\/humu.10297","type":"journal-article","created":{"date-parts":[[2003,12,22]],"date-time":"2003-12-22T08:00:55Z","timestamp":1072080055000},"page":"85-91","source":"Crossref","is-referenced-by-count":34,"title":["A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency"],"prefix":"10.1155","volume":"23","author":[{"given":"Marilyn M.","family":"Gordon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Brada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angel","family":"Remacha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Badell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth del","family":"R\u00edo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Montserrat","family":"Baiget","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u00e9","family":"Santer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward V.","family":"Quadros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheldon P.","family":"Rothenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David H.","family":"Alpers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2003,12,19]]},"reference":[{"key":"10.1002\/humu.10297-BIB1|cit1","first-page":"67","article-title":"Gastric juice in congenital pernicious anemia contains no immunoreactive intrinsic factor molecule: study of three kindreds with variable ages at presentation, including a patient first diagnosed in adulthood","volume":"35","author":"Carmel","year":"1983","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.10297-BIB2|cit2","first-page":"228","article-title":"Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis","volume":"36","author":"Ferec","year":"1999","journal-title":"J Med Genet"},{"key":"10.1002\/humu.10297-BIB3|cit3","first-page":"60","volume-title":"Gastric intrinsic factor and other vitamin B12 binders: biochemistry, physiology and relation to Vitamin B12 metabolism","author":"Glass","year":"1974"},{"key":"10.1002\/humu.10297-BIB4|cit4","first-page":"G736","article-title":"Glycosylation is not required for ligand or receptor binding by expressed rat intrinsic factor","volume":"260","author":"Gordon","year":"1991","journal-title":"Am J Physiol"},{"key":"10.1002\/humu.10297-BIB5|cit5","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1016\/0167-4781(92)90161-R","article-title":"In vitro expression and secretion of functional mammalian intrinsic factor using recombinant baculovirus","volume":"1132","author":"Gordon","year":"1992","journal-title":"Biochim Biophys Acta"},{"key":"10.1002\/humu.10297-BIB6|cit6","first-page":"G33","article-title":"Cathepsin L initiates the intracellular ileal digestion of gastric intrinsic factor","volume":"268","author":"Gordon","year":"1995","journal-title":"Am J Physiol"},{"key":"10.1002\/humu.10297-BIB7|cit7","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/0888-7543(91)90329-D","article-title":"Human gastric intrinsic factor: characterization of cDNA and genomic clones and localization to human chromosome 11","volume":"10","author":"Hewitt","year":"1991","journal-title":"Genomics"},{"key":"10.1002\/humu.10297-BIB8|cit8","doi-asserted-by":"crossref","first-page":"1274","DOI":"10.1172\/JCI107674","article-title":"Isolation and characterization of an abnormal intrinsic factor","volume":"53","author":"Katz","year":"1974","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.10297-BIB9|cit9","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1016\/S0016-5085(85)80071-8","article-title":"Intrinsic factor within parietal cells of patients with juvenile pernicious anemia","volume":"88","author":"Levine","year":"1985","journal-title":"Gastroenterology"},{"key":"10.1002\/humu.10297-BIB10|cit10","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1016\/S0016-5085(67)80067-2","article-title":"Childhood pernicious anemia: gastrointestinal secretory, histological, and electron microscopic aspects","volume":"52","author":"Lillibridge","year":"1967","journal-title":"Gastroenterology"},{"key":"10.1002\/humu.10297-BIB11|cit11","first-page":"389","article-title":"The influence of sham feeding on gastric acid and pepsin secretion in the Chinese with duodenal ulcer and liver cirrhosis","volume":"54","author":"Lin","year":"1994","journal-title":"Zhonghua Yi Xue Za Zhi (Taipei)"},{"key":"10.1002\/humu.10297-BIB12|cit12","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1056\/NEJM196611032751802","article-title":"Juvenile \u201ccongenital\u201d pernicious anemia: clinical and immunological studies","volume":"275","author":"Miller","year":"1966","journal-title":"N Eng J Med"},{"key":"10.1002\/humu.10297-BIB13|cit13","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller","year":"1988","journal-title":"Nucleic Acid Res"},{"key":"10.1002\/humu.10297-BIB14|cit14","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1007\/BF01696224","article-title":"Congenital intrinsic factor deficiency in a Spanish patient","volume":"64","author":"Remacha","year":"1992","journal-title":"Ann Hematol"},{"key":"10.1002\/humu.10297-BIB15|cit15","doi-asserted-by":"crossref","first-page":"2057","DOI":"10.1172\/JCI112208","article-title":"Cobalamin malabsorption in three siblings due to an abnormal intrinsic factor that is markedly susceptible to acid and proteolysis","volume":"76","author":"Yang","year":"1985","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.10297-BIB16|cit16","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1182\/blood.V72.3.940.bloodjournal723940","article-title":"Combined congenital deficiencies of intrinsic factor and R binder","volume":"72","author":"Zittoun","year":"1988","journal-title":"Blood"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.10297","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.10297","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:51:01Z","timestamp":1672332661000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.10297"}},"subtitle":["CONGENITAL INTRINSIC FACTOR DEFICIENCY"],"short-title":[],"issued":{"date-parts":[[2003,12,19]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,1]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.10297","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2003,12,19]]}}}