Heterozygous TGFBR2 mutations in Marfan syndrome

Marfan syndrome (MFS) is an extracellular matrix disorder with cardinal manifestations in the eye, skeleton, and cardiovascular systems and associated with defects in the fibrillin gene (FBN1) at 15q21.1 1. We previously mapped the second locus for MFS (MFS type 2, MFS2, OMIM *154705), at 3p24.2-p25...

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Detalhes bibliográficos
Main Authors: Mizuguchi, Takeshi, Collod-Beroud, Gwenaëlle, Akiyama, Takushi, Abifadel, Marianne, Harada, Naoki, Morisaki, Takayuki, Allard, Delphine, Varret, Mathilde, Claustres, Mireille, Morisaki, Hiroko, Ihara, Makoto, Kinoshita, Akira, Yoshiura, Koh-ichiro, Junien, Claudine, Kajii, Tadashi, Jondeau, Guillaume, Ohta, Tohru, Kishino, Tatsuya, Furukawa, Yoichi, Nakamura, Yusuke, Niikawa, Norio, Boileau, Catherine, Matsumoto, Naomichi
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Pub. Co. 2004
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2230615/
https://ncbi.nlm.nih.gov/pubmed/15235604
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng1392
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