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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Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Pub. Co. 2004
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Article
Online Zugang: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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