Hereditary haemorrhagic telangiectasia - the different phenotypes caused by endoglin and ALK1 mutation

被引：0
|
作者：
Berg, J
Marchuk, D
Guttmacher, A
Porteous, M
机构：
[1] Univ Edinburgh, Human Genet Unit, Edinburgh EH8 9YL, Midlothian, Scotland
[2] Duke Univ, Dept Genet, Durham, NC 27706 USA
来源：
JOURNAL OF MEDICAL GENETICS | 1999年 / 36卷
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：S29 / S29
页数：1
相关论文
共 50 条
  • [21] Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia
    Lastella, P
    Sabbà, C
    Lenato, GM
    Resta, N
    Lattanzi, W
    Gallitelli, M
    Cirulli, A
    Guanti, G
    CLINICAL GENETICS, 2003, 63 (06) : 536 - 540
  • [22] Endoglin is a conserved regulator of vasculogenesis in zebrafish - implications for hereditary haemorrhagic telangiectasia
    Zhang, Ding
    Zhou, Fang
    Zhao, Xiuli
    Liu, Bao
    Chen, Jingyu
    Yang, Jun
    BIOSCIENCE REPORTS, 2019, 39
  • [23] Association of Alk1 and Endoglin Polymorphisms with Cardiovascular Damage
    Mercedes Garzon-Martinez
    Nuria Perretta-Tejedor
    Luis Garcia-Ortiz
    Manuel A. Gomez-Marcos
    Rogelio Gonzalez-Sarmiento
    Francisco J. Lopez-Hernandez
    Carlos Martinez-Salgado
    Scientific Reports, 10
  • [24] Association of Alk1 and Endoglin Polymorphisms with Cardiovascular Damage
    Garzon-Martinez, Mercedes
    Perretta-Tejedor, Nuria
    Garcia-Ortiz, Luis
    Gomez-Marcos, Manuel A.
    Gonzalez-Sarmiento, Rogelio
    Lopez-Hernandez, Francisco J.
    Martinez-Salgado, Carlos
    SCIENTIFIC REPORTS, 2020, 10 (01)
  • [25] A novel endoglin mutation in hereditary hemorrhagic telangiectasia type 1: A case report
    Lu, Yanjun
    Zhu, Yaowu
    Shi, Lili
    Zhen, Hongtao
    Sun, Ziyong
    Cheng, Liming
    MOLECULAR MEDICINE REPORTS, 2015, 12 (01) : 510 - 512
  • [26] Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France
    Lesca, G
    Plauchu, H
    Coulet, F
    Lefebvre, S
    Plessis, G
    Odent, S
    Rivière, S
    Leheup, B
    Goizet, C
    Carette, MF
    Cordier, JF
    Pinson, S
    Soubrier, F
    Calender, A
    Giraud, S
    HUMAN MUTATION, 2004, 23 (04) : 289 - 299
  • [27] Therapeutic action of tranexamic acid in hereditary haemorrhagic telangiectasia (HHT):: Regulation of ALK-I/endoglin pathway in endothelial cells
    Fernandez-L, Africa
    Garrido-Martin, Eva M.
    Sanz-Rodriguez, Francisco
    Ramirez, Jose-Ramon
    Morales-Angulo, Carmelo
    Zarrabeitia, Roberto
    Perez-Molino, Alfonso
    Bernabeu, Carmelo
    Botella, Luisa-Mari
    THROMBOSIS AND HAEMOSTASIS, 2007, 97 (02) : 254 - 262
  • [28] A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia
    Yamaguchi, H
    Azuma, H
    Shigekiyo, T
    Inoue, H
    Saito, S
    THROMBOSIS AND HAEMOSTASIS, 1997, 77 (02) : 243 - 247
  • [29] Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1
    Albinana, Virginia
    Zafra, Ma Paz
    Colau, Jorge
    Zarrabeitia, Roberto
    Recio-Poveda, Lucia
    Olavarrieta, Leticia
    Perez-Perez, Julian
    Botella, Luisa M.
    BMC MEDICAL GENETICS, 2017, 18
  • [30] Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1
    Botella, Luisa M.
    Zarrabeitia, Roberto
    Recio-Poveda, Lucia
    Bernabeu, Carmelo
    Albipana, Virginia
    ANGIOGENESIS, 2018, 21 (01) : 146 - 146
12345