期刊论文详细信息
Journal of genetics | |
Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome | |
June-Bum Kim31  Young-Hwa Song3  Gu-Hwan Kim2  Han-Wook Yoo2  | |
[1] Department of Pediatrics, Seoul Children’s Hospital, Hunleunglo 260 (Naegok 6-7), Sucho-Goo, Seoul 137-180, Republic of Korea$$;Medical Genetics Clinic, Asan Medical Center, 388-1 Poongnap-Dong, Songpa-Goo, Seoul 138-736, Republic of Korea$$;Department of Pediatrics, Konyang University Hospital, 685 Gasoowon-Dong, Su-Goo, Daejun 302-718, Republic of Korea$$ | |
关键词: Marfan syndrome; de novo mutation; FBN1 gene; nonsense mutation.; | |
DOI : | |
学科分类:生物科学(综合) | |
来源: Indian Academy of Sciences | |