P1148A in fibrillin-1 is not a mutation anymore

被引：0
|
作者：
Mei Wang
Kurt R. Mathews
Kiyoshi Imaizumi
Soraya Beiraghi
Bruce Blumberg
Maren Scheuner
John M. Graham
Maurice Godfrey
机构：
[1] University of Nebraska Medical Center,Munroe Center for Human Genetics
[2] University of Nebraska Medical Center,Department of Pediatrics
[3] Kanagawa Children's Medical Center,undefined
[4] Permanente Medical Group,undefined
[5] Cedars Sinai Medical Center,undefined
来源：
Nature Genetics | 1997年 / 15卷
关键词：
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：12 / 12
相关论文
共 50 条
  • [1] P1148A in fibrillin-1 is not a mutation anymore
    Wang, M
    Mathews, KR
    Imaizumi, K
    Beiraghi, S
    Blumberg, B
    Scheuner, M
    Graham, JM
    Godfrey, M
    NATURE GENETICS, 1997, 15 (01) : 12 - 12
  • [2] P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome
    Watanabe, Y
    Yano, S
    Koga, Y
    Yukizane, S
    Nishiyori, A
    Yoshino, M
    Kato, H
    HUMAN MUTATION, 1997, 10 (04) : 326 - 327
  • [3] P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome
    Watanabe, Y
    Yano, S
    Koga, Y
    Yukizane, S
    Nishiyori, A
    Yoshino, M
    Ogata, T
    Adachi, M
    Kato, H
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A116 - A116
  • [4] NMR analysis of cbEGF domains gives new insights into the structural consequences of a P1148A substitution in fibrillin-1
    Whiteman, P
    Downing, AK
    Handford, PA
    PROTEIN ENGINEERING, 1998, 11 (11): : 957 - 959
  • [5] Fibrillin-1 is expressed in cartilage and mutation leads to OA development
    Ramanayake, W.
    Jones, H.
    Orriss, I.
    Arnett, T.
    Pitsillides, A. A.
    Denton, C.
    Abraham, D.
    Poulet, B.
    INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY, 2015, 96 (02) : A4 - A5
  • [6] Identification of a novel lethal fibrillin-1 gene mutation in a Chinese Marfan family and correlation of 3' fibrillin-1 gene mutations with phenotype
    Gao Ling-gen
    Zhang Lin
    Song Lei
    Wang Hu
    Chang Qian
    Wu Yong-bo
    Hui Ru-tai
    Zhou Xian-liang
    CHINESE MEDICAL JOURNAL, 2010, 123 (20) : 2874 - 2878
  • [7] Identification of a fibrillin-1 gene mutation in a Chinese Marfan syndrome family
    Peng Fan
    Sufang Hao
    Kunqi Yang
    Peipei Lu
    Ying Zhang
    Xu Meng
    Xianliang Zhou
    中国循环杂志, 2018, (S1) : 140 - 141
  • [8] Effects of Fibrillin-1 mutation (Tight skin mouse) in joint health
    Keenan, C.
    Ramos, L.
    Smith, H.
    Ramanayake, W.
    Andrew, P.
    Bou-Gharios, G.
    David, A.
    Blandine, P.
    INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY, 2019, 100 (04) : A22 - A22
  • [9] A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome
    Sureka, Dimple
    Stheneur, Chantal
    Odent, Sylvie
    Arno, Gavin
    Murphy, Daniel
    Bernstein, Jonathan A.
    JOURNAL OF PEDIATRIC GENETICS, 2014, 3 (03) : 157 - 162
  • [10] Fibrillin-1 misfolding and disease
    Whiteman, Pat
    Hutchinson, Sarah
    Handford, Penny A.
    ANTIOXIDANTS & REDOX SIGNALING, 2006, 8 (3-4) : 338 - 346
12345