Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome

Journal of genetics

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

【 授权许可】

Unknown