[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100208829":3},{"organization":4,"armGroups":7,"interventions":8,"overallOfficials":18,"centralContacts":23,"locations":33,"responsibleParty":51,"collaborators":7,"id":56,"slug":57,"hasResults":58,"nctId":59,"briefTitle":60,"officialTitle":61,"acronym":7,"eligibilityCriteria":62,"healthyVolunteers":58,"sex":63,"minAge":64,"maxAge":65,"enrollmentInfo":7,"targetDuration":7,"studyType":66,"phases":7,"briefSummary":67,"conditions":68,"keywords":73,"overallStatus":36,"whyStopped":7,"lastUpdateSubmitDate":76,"lastUpdatePostDateStruct":77,"startDateStruct":7,"completionDateStruct":7,"leadSponsor":80,"locationsCount":81},{"fullName":5,"class":6},"ChineseAMS","UNKNOWN",null,[9,13],{"type":10,"name":11,"description":12,"armGroupLabels":7,"otherNames":7},"GENETIC","human whole exome","he exome is the part of the genome formed by exons, coding portions of genes in the genome that are used in the synthesis of proteins, therefore, it is most likely to contribute to the phenotype of an organism. The exome of the human genome, is estimated to comprise 1.5% of the total genome (The human exome is about 30 MB).",{"type":10,"name":14,"description":15,"armGroupLabels":7,"otherNames":16},"whole genomic","This study propose to find the genes that are sensitive to DNA crosslink repair, and genes that have key roles in hematopoietic cell development and maturation.",[17],"whole exome",[19],{"name":20,"affiliation":21,"role":22},"Tao Cheng, professor","Institute of Hematology & Blood Diseases Hospital, China","PRINCIPAL_INVESTIGATOR",[24,29],{"name":25,"role":26,"phone":27,"phoneExt":7,"email":28},"Xiaofan Zhu, professor","CONTACT","+86-022-23909001","zhuxiaof@yahoo.com.cn",{"name":30,"role":26,"phone":31,"phoneExt":7,"email":32},"Huimin Zeng, doctor","+86-022-23909197","zengpretty@yahoo.com.cn",[34],{"facility":35,"status":36,"city":37,"state":38,"zip":39,"country":40,"countryCode":41,"cosmosGeoPoint":42,"geoPoint":47,"contacts":48},"Institute of Hematology & Blood Diseases Hospital","AVAILABLE","Tianjin","Tianjin Municipality","300020","China","CN",{"type":43,"coordinates":44},"Point",[45,46],117.17667,39.14222,{"lat":46,"lon":45},[49,50],{"name":25,"role":26,"phone":27,"phoneExt":7,"email":28},{"name":25,"role":22,"phone":7,"phoneExt":7,"email":7},{"type":52,"investigatorFullName":53,"investigatorTitle":54,"investigatorAffiliation":55,"oldNameTitle":7,"oldOrganization":7},"SPONSOR_INVESTIGATOR","Xiaofan Zhu","Professor","Chinese Academy of Medical Sciences","100208829","use-massive-parallel-sequencing-and-exome-capture-technology-to-sequence-the-exome-of-fanconi-anemia-children-and-their-patents-100208829",false,"NCT01995305","Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents","Exome Sequencing of Fanconi Anemia Children and the Their Parents","Inclusion Criteria:\n\nAll the children that are diagnosed to be FA patients at the Blood Disease Hospital between 08\u002F01\u002F2010 - 07\u002F31\u002F2011, will be asked to participated in this study after acquiring the consent.\n\nExclusion Criteria:\n\nCan not acquiring content","ALL","1 Month","18 Years","EXPANDED_ACCESS","Fanconi anemia is a rare autosomal or sex linked recessive genetic disease. The disease is characterized by bone marrow hematopoiesis failure, multiple congenital abnormalities, and susceptibility to neoplastic diseases. The cells of FA patients are extremely sensitive to MMC and DEB. The symptoms and ages of FA patients are different, so by comparing the exome of FA patients and their parents, the mutations that were accumulated in FA patients could be found, and these genes might be sensitive to repairment and be important for hematopoiesis maintainance.",[69,70,71,72],"Fanconi Anemia","Autosomal or Sex Linked Recessive Genetic Disease","Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases.","Hematopoiesis Maintainance.",[74,75],"fanconi anemia","hematopoiesis maintainance","2013-11-21",{"date":78,"type":79},"2013-11-26","ESTIMATED",{"name":53,"class":6},1]