title: An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: the use of minigene assay in splicing analysis.
authors: Department of Cardiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, No 167, Beilishi Road, Beijing 100037, China.
authors: Yan
authors: Y
authors: Xiao
authors: Department of Cardiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, No 167, Beilishi Road, Beijing 100037, China.
authors: Kun-Qi
authors: KQ
authors: Yang
authors: Department of Cardiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, No 167, Beilishi Road, Beijing 100037, China. Electronic address: zhouxianliang0326@hotmail.com.
authors: Xian-Liang
authors: XL
authors: Zhou
authors: McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, No 5, Dong Dan San Tiao, Beijing 100005, China.
authors: Yu-Qi
authors: YQ
authors: Shen
authors: McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, No 5, Dong Dan San Tiao, Beijing 100005, China.
authors: Chao-Xia
authors: CX
authors: Lu
authors: McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, No 5, Dong Dan San Tiao, Beijing 100005, China. Electronic address: xuezhang@pumc.edu.cn.
authors: Xue
authors: X
authors: Zhang
mesh_terms: D000792:Angiography; D001014:Aortic Aneurysm / Q000150:complications / Q000000981:diagnostic imaging; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000150:complications / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D012326:RNA Splicing / Q000235:genetics*; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines