✦ LIBER ✦

Evaluating Japanese Patients With the Marfan Syndrome Using High-Throughput Microarray-Based Mutational Analysis of Fibrillin-1 Gene

✍ Scribed by Naomi Ogawa; Yasushi Imai; Yuji Takahashi; Kan Nawata; Kazuo Hara; Hiroshi Nishimura; Masayoshi Kato; Norifumi Takeda; Takahide Kohro; Hiroyuki Morita; Tsuyoshi Taketani; Tetsuro Morota; Tsutomu Yamazaki; Jun Goto; Shoji Tsuji; Shinichi Takamoto; Ryozo Nagai; Yasunobu Hirata

Book ID: 113448539
Publisher: Elsevier Science
Year: 2011
Tongue: English
Weight: 839 KB
Volume: 108
Category: Article
ISSN: 0002-9149
DOI: 10.1016/j.amjcard.2011.07.053

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Analysis of the fibrillin-1 gene (FBN1)

Analysis of the fibrillin-1 gene (FBN1) in patients with Marfan syndrome

✍ R. R. Valiev; R. I. Khusainova; I. A. Kutuev; E. K. Khusnutdinova 📂 Article 📅 2006 🏛 SP MAIK Nauka/Interperiodica 🌐 English ⚖ 223 KB

Mutation spectrum of the fibrillin-1 (FB

Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome

✍ Chia-Cheng Hung; Shin-Yu Lin; Chien-Nan Lee; Hui-Yu Cheng; Shuan-Pei Lin; Ming-R 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 119 KB

Eight novel mutations of the FBN1 gene f

Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome

✍ Ritsu Matsukawa; Kazuki Iida; Masako Nakayama; Tsunehiro Mukai; Yutaka Okita; Mo 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 2 views

Mutation screening of all 65 exons of th

Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations

✍ Caroline Hayward; Mary E. Porteous; David J. H. Brock 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 261 KB 👁 2 views

Mutations in the fibrillin-1 gene on chromosome 15q21.1 have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically variable skeletal, ocular, and cardiovascular abnormalities. In this study we screened all 65 exons of the fibrillin-1 gene in 20 Marfan syndr

Mutational analysis of the TCOF1 gene in

Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis

✍ Katsumi Horiuchi; Tadashi Ariga; Hirotaka Fujioka; Kunihiro Kawashima; Yuhei Yam 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 152 KB 👁 2 views

Mutation screening of the fibrillin-1 (F

Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations

✍ Kathrin Rommel; Matthias Karck; Axel Haverich; Jörg Schmidtke; Mine Arslan-Kirch 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 38 KB

Mutations in the gene encoding fibrillin-1 (FBN1) cause Marfan syndrome (MFS) and other related connective tissue disorders. In this study we performed SSCP to analyze all 65 exons of the FBN1 gene in 76 patients presenting with classical MFS or related phenotypes. We report 7 missense mutations, 3