McLeod syndrome: a novel mutation in an Italian patient

被引：0
|
作者：
Cittadella, R.
De Marco, E. V.
Tartara, E. [1 ]
Piccolo, G. [1 ]
Cortese, A. [1 ]
Ricca, I. [1 ]
Terzaghi, M. [1 ]
Benna, P. [2 ]
Galimberti, C. A. [1 ]
机构：
[1] IRCCS C Mondino Natl Neurol Inst, Pavia, Italy
[2] AOU Citta Salute & Sci, Dept Neurosci & Mental Hlth, Turin, Italy
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P09.075C
引用
收藏
页码：397 / 397
页数：1
相关论文
共 50 条
  • [1] A novel nonsense mutation in a Taiwanese patient with McLeod syndrome
    Chen, P. Y.
    Yan, S. H.
    Yang, C. C.
    Lee, M. J.
    Chiu, Y. H.
    Lai, S. C.
    Yeh, T. H.
    Lu, C. S.
    MOVEMENT DISORDERS, 2013, 28 : S254 - S255
  • [2] McLeod syndrome in an Italian patient
    De Marco, E. V.
    Cittadella, R.
    Minafra, B.
    Avantaggiato, F.
    Zangaglia, R.
    Pacchetti, C.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 944 - 944
  • [3] A spontaneous novel XK gene mutation in a patient with McLeod syndrome
    Supple, SG
    Iland, HJ
    Barnett, MH
    Pollard, JD
    BRITISH JOURNAL OF HAEMATOLOGY, 2001, 115 (02) : 369 - 372
  • [4] Identification of a novel XK mutation in a Chinese patient with McLeod Syndrome
    Ma, J.
    Liu, Y. M.
    MOVEMENT DISORDERS, 2020, 35 : S29 - S29
  • [5] Identification and characterization of a novel XK splice site mutation in a patient with McLeod syndrome
    Arnaud, Lionel
    Salachas, Francois
    Lucien, Nicole
    Maisonobe, Thierry
    Le Pennec, Pierre-Yves
    Babinet, Jerome
    Cartron, Jean-Pierre
    TRANSFUSION, 2009, 49 (03) : 479 - 484
  • [6] Case of McLeod syndrome with a novel genetic mutation
    Narumi, Shinsuke
    Natori, Tatsunori
    Miyazawa, Haruna
    Kato, Tadayoshi
    Yonezawa, Hisashi
    Nishino, Ichizo
    Nakamura, Masayuki
    Sano, Akira
    Terayama, Yasuo
    NEUROLOGY AND CLINICAL NEUROSCIENCE, 2016, 4 (03): : 115 - 117
  • [7] A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis
    Ho, MF
    Chalmer, RM
    Davis, MB
    Harding, AE
    Monaco, AP
    ANNALS OF NEUROLOGY, 1996, 39 (05) : 672 - 675
  • [8] A Novel XK Gene Mutation Causative of McLeod Syndrome
    Srikanth, Priya
    Al-Louzi, Omar A.
    Bowley, Michael P.
    Videnovic, Aleksandar
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2020, 7 (03): : 340 - 342
  • [9] A Case of McLeod Syndrome with A Novel XK Missense Mutation
    Komiya, Hiroyasu
    Takasu, Mutsuki
    Hashiguchi, Shunta
    Uematsu, Eri
    Fukai, Ryoko
    Tanaka, Kenichi
    Tada, Mikiko
    Joki, Hideto
    Takahashi, Tatsuya
    Koyano, Shigeru
    Doi, Hiroshi
    Takeuchi, Hideyuki
    Tanaka, Fumiaki
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2018, 5 (03): : 333 - 336
  • [10] A novel mutation of the McLeod syndrome gene in a Japanese family
    Ueyama, H
    Kumamoto, T
    Nagao, S
    Masuda, T
    Sugihara, R
    Fujimoto, S
    Tsuda, T
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2000, 176 (02) : 151 - 154
12345