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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Detaylı Bibliyografya
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Pub. Co. 2004
Konular:
Article
Online Erişim: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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