Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family

التفاصيل البيبلوغرافية
العنوان: Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family
المؤلفون: Ji-Fang Xiao, Hai Xiao, Jia Huang, Liangjie Guo, Yue Wang, Xue Lyu, Tao Li, Hongyan Liu, Dong Wu, Hongdan Wang, Zheng-Hong Yu, Qiannan Guo
المصدر: Chinese Medical Journal, Vol 130, Iss 1, Pp 104-107 (2017)
Chinese Medical Journal
بيانات النشر: Wolters Kluwer, 2017.
سنة النشر: 2017
مصطلحات موضوعية: 0301 basic medicine, Avascular Necrosis of the Femoral Head, Adult, Male, Short Communication, lcsh:Medicine, Cartilage Oligomeric Matrix Protein, Osteochondrodysplasias, Collagen Type II Alpha 1, Differential Diagnosis, Whole-exome Sequencing, Multiple epiphyseal dysplasia, 03 medical and health sciences, 0302 clinical medicine, Asian People, medicine, Humans, Exome, Genetic Predisposition to Disease, Chinese family, Collagen Type II, Exome sequencing, Genetics, business.industry, lcsh:R, General Medicine, Sequence Analysis, DNA, medicine.disease, Pedigree, 030104 developmental biology, Female, business, 030217 neurology & neurosurgery
اللغة: English
تدمد: 0366-6999
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d11b9c6197e86c3a899242d2ae55f3c4Test
http://www.cmj.org/article.asp?issn=0366-6999;year=2017;volume=130;issue=1;spage=104;epage=107;aulast=LiuTest
حقوق: OPEN
رقم الانضمام: edsair.doi.dedup.....d11b9c6197e86c3a899242d2ae55f3c4
قاعدة البيانات: OpenAIRE