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Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome.
Qi, Zhan; Shen, Ying; Fu, Qian; Li, Wei; Yang, Wei; Xu, Wenshan; Chu, Ping; Zhang, Yaxin; Wang, Hui.
Affiliation
  • Qi Z; Beijing Key Laboratory for Genetics of Birth Defects, Key Laboratory of Major Diseases in Children of Ministry of Education, Center for Medical Genetics, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100
  • Shen Y; Beijing Key Laboratory for Chronic Renal Disease and Blood Purification, Key Laboratory of Major Diseases in Children of Ministry of Education; Nephrology Department, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
  • Fu Q; Beijing Key Laboratory for Chronic Renal Disease and Blood Purification, Key Laboratory of Major Diseases in Children of Ministry of Education; Nephrology Department, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
  • Li W; Beijing Key Laboratory for Genetics of Birth Defects, Key Laboratory of Major Diseases in Children of Ministry of Education, Center for Medical Genetics, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100
  • Yang W; Beijing Key Laboratory for Genetics of Birth Defects, Key Laboratory of Major Diseases in Children of Ministry of Education, Center for Medical Genetics, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100
  • Xu W; Beijing Key Laboratory for Genetics of Birth Defects, Key Laboratory of Major Diseases in Children of Ministry of Education, Center for Medical Genetics, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100
  • Chu P; Beijing Key Laboratory for Pediatric Disease of Otolaryngology, Head and Neck Surgery, Key Laboratory of Major Diseases in Children of Ministry of Education; Beijing Pediatric Research Institute; Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing,
  • Zhang Y; School of Pediatrics, Capital Medical University, Beijing, 100069, China.
  • Wang H; Beijing Key Laboratory for Chronic Renal Disease and Blood Purification, Key Laboratory of Major Diseases in Children of Ministry of Education; Nephrology Department, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China. Wanghui@bch.c
Sci China Life Sci ; 60(7): 739-745, 2017 Jul.
Article in En | MEDLINE | ID: mdl-28624958
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bardet-Biedl Syndrome / Group II Chaperonins / Exome Limits: Child / Female / Humans Language: En Journal: Sci China Life Sci Journal subject: BIOLOGIA / CIENCIA Year: 2017 Document type: Article Country of publication: China
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bardet-Biedl Syndrome / Group II Chaperonins / Exome Limits: Child / Female / Humans Language: En Journal: Sci China Life Sci Journal subject: BIOLOGIA / CIENCIA Year: 2017 Document type: Article Country of publication: China