{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,15]],"date-time":"2023-10-15T22:28:12Z","timestamp":1697408892311},"reference-count":16,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2006,11,1]],"date-time":"2006-11-01T00:00:00Z","timestamp":1162339200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2006,11]]},"DOI":"10.1016\/j.cca.2006.04.027","type":"journal-article","created":{"date-parts":[[2006,5,19]],"date-time":"2006-05-19T11:19:02Z","timestamp":1148037542000},"page":"49-54","source":"Crossref","is-referenced-by-count":1,"title":["Analysis of clinical manifestations, mutant gene and encoded protein in two Chinese MYH9-related disease families"],"prefix":"10.1016","volume":"373","author":[{"given":"Yan","family":"Yi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guang","family":"Sen Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhu","family":"San Ling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiu","family":"Ru Shao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia","family":"Zeng Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2006.04.027_bib1","first-page":"1","article-title":"Leukozyteneinschlusse","volume":"96","author":"May","year":"1909","journal-title":"Dtsch Arch Klin Med"},{"key":"10.1016\/j.cca.2006.04.027_bib2","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/S0002-9343(98)00062-X","article-title":"Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May\u2013Hegglin anomaly): clinical and laboratory findings","volume":"104","author":"Noris","year":"1998","journal-title":"Am J Med"},{"key":"10.1016\/j.cca.2006.04.027_bib3","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1007\/s004390051119","article-title":"Mapping of a gene for May\u2013Hegglin anomaly to chromosome 22q","volume":"105","author":"Kunishima","year":"1999","journal-title":"Hum Genet"},{"key":"10.1016\/j.cca.2006.04.027_bib4","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1086\/302873","article-title":"The gene for May\u2013Hegglin anomaly localizes to a<1-Mb region on chromosome 22q12.3-13.1","volume":"66","author":"Martignetti","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.cca.2006.04.027_bib5","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1007\/s004390050025","article-title":"Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May\u2013Hegglin anomaly) is linked to chromosome 22q12-13","volume":"106","author":"Kelley","year":"2000","journal-title":"Hum Genet"},{"key":"10.1016\/j.cca.2006.04.027_bib6","doi-asserted-by":"crossref","first-page":"1826","DOI":"10.1182\/blood.V78.7.1826.1826","article-title":"Cellular myosin heavy chain in human leukocytes: isolation upregulation during myeloid differentiation","volume":"78","author":"Toothaker","year":"1991","journal-title":"Blood"},{"key":"10.1016\/j.cca.2006.04.027_bib7","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/S0167-4889(00)00005-7","article-title":"Myosins: a diverse superfamily","volume":"1496","author":"Sellers","year":"2000","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.cca.2006.04.027_bib8","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1007\/s100380170007","article-title":"Identification of six novel MYH9 mutations and genotype\u2013phenotype relationships in autosomal dominant macrothrombcytopenia with leukocyte inclusions","volume":"46","author":"Kunishima","year":"2001","journal-title":"J Hum Genet"},{"key":"10.1016\/j.cca.2006.04.027_bib9","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1086\/324267","article-title":"Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May\u2013Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes","volume":"69","author":"Heath","year":"2001","journal-title":"Am J Hum Genet"},{"issue":"97","key":"10.1016\/j.cca.2006.04.027_bib10","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1182\/blood.V97.4.1147","article-title":"Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May\u2013Hegglin anomaly\/Sebastian syndrome)","volume":"15","author":"Kunishima","year":"2001","journal-title":"Blood"},{"key":"10.1016\/j.cca.2006.04.027_bib11","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1046\/j.1365-2141.2002.03385.x","article-title":"Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders","volume":"117","author":"Pecci","year":"2002","journal-title":"Br J Haematol"},{"key":"10.1016\/j.cca.2006.04.027_bib12","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1038\/79069","article-title":"Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May\u2013Hegglin anomaly","volume":"26","author":"Kelley","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/j.cca.2006.04.027_bib13","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1038\/79063","article-title":"Mutations in MYH9 result in the May\u2013Hegglin anomaly, and Fechtner and Sebastian syndromes. The May\u2013Heggllin\/Fechtner Syndrome Consortium","volume":"26","author":"Seri","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/j.cca.2006.04.027_bib14","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1097\/01.md.0000076006.64510.5c","article-title":"MYH9-related disease May\u2013Hegglin anomaly, Sebastian Syndrome, Fetcher Syndrome, and Epstein Syndrome are not distinct entities but represent a variable expression of a single illness","volume":"82","author":"Seri","year":"2003","journal-title":"Medicine"},{"key":"10.1016\/j.cca.2006.04.027_bib15","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1097\/01.LAB.0000050960.48774.17","article-title":"Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations","volume":"83","author":"Kunishima","year":"2003","journal-title":"Lab Invest"},{"key":"10.1016\/j.cca.2006.04.027_bib16","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1182\/blood-2002-09-2783","article-title":"Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May\u2013Hegglin anomaly\/Fechtner syndrome","volume":"102","author":"Deutsch","year":"2003","journal-title":"Blood"}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898106002531?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898106002531?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,4,14]],"date-time":"2020-04-14T23:21:19Z","timestamp":1586906479000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898106002531"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,11]]},"references-count":16,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2006,11]]}},"alternative-id":["S0009898106002531"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2006.04.027","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2006,11]]}}}