A novel mutation combining with rs66612022 in a Chinese pedigree suggests a new pathogenesis to osteogenesis imperfecta via whole genome sequencing.

Li, Yanjiao; Liang, Hongsuo; Yuan, Dekai; Liu, Baoling; Liu, Ling; Zhang, Yongfa; Hou, Kaiyu; Zhang, Yunchao; Chen, Bin; Ding, Jing; Li, Yunxia; Wang, Qilin; Wu, Haiying; Shi, Hong; Hu, Min

Li, Yanjiao; Liang, Hongsuo; Yuan, Dekai; Liu, Baoling; Liu, Ling; Zhang, Yongfa; Hou, Kaiyu; Zhang, Yunchao; Chen, Bin; Ding, Jing; Li, Yunxia; Wang, Qilin; Wu, Haiying; Shi, Hong; Hu, Min.

Afiliación

Li Y; Yunnan Key laboratory for Basic Research on Bone and Joint Diseases &Yunnan Stem Cell Translational Research Center, Kunming University, Kunming, Yunnan, China.
Liang H; Joint Surgery Department of the Second People's Hospital of Nanning City, Nanning, Guangxi Zhuang Autonomous Region, China.
Yuan D; Kunming University School of Medicine, Kunming University, Kunming, Yunnan, China.
Liu B; First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China.
Liu L; Kunming Children's Hospital, Kunming, Yunnan, China.
Zhang Y; The first people's Hospital of Yunnan Province, Kunming, Yunnan, China.
Hou K; The second people's Hospital of Yunnan Province, Kunming, Yunnan, China.
Zhang Y; The third people's Hospital of Yunnan Province, Kunming, Yunnan, China.
Chen B; Kunming General Hospital of Chengdu Military Command, Kunming, Yunnan, China.
Ding J; Kunming General Hospital of Chengdu Military Command, Kunming, Yunnan, China.
Li Y; Yunnan Cancer Hospital & The Third Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China.
Wang Q; Yunnan Cancer Hospital & The Third Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China.
Wu H; The Second Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China.
Shi H; Yunnan Key Laboratory of Primate Biomedical Research, Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming, Yunnan, China.
Hu M; Yunnan Key laboratory for Basic Research on Bone and Joint Diseases &Yunnan Stem Cell Translational Research Center, Kunming University, Kunming, Yunnan, China.

Ann Hum Genet ; 84(4): 339-344, 2020 07.

Article en En | MEDLINE | ID: mdl-31853946

Asunto(s)

Colágeno Tipo I/genética; Proteínas de la Matriz Extracelular/genética; Receptores de Hialuranos/genética; Osteogénesis Imperfecta/genética; Pueblo Asiatico/genética; China; Femenino; Humanos; Masculino; Mutación Missense; Linaje; Polimorfismo de Nucleótido Simple; Secuenciación Completa del Genoma

Palabras clave

COL1A2; HMMR; osteogenesis imperfecta; pedigree analysis; whole genome sequencing

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Proteínas de la Matriz Extracelular / Receptores de Hialuranos / Colágeno Tipo I Tipo de estudio: Etiology_studies Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Ann Hum Genet Año: 2020 Tipo del documento: Article País de afiliación: China

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