A novel mutation at XK gene responsible for a McLeod phenotype

被引：0
|
作者：
Wendel, S
Fontao-Wendel, R
Levi, JE
Aravecchia, MG
Bordokan, R
David, R
Haddad, M
机构：
[1] Hosp Sirio Libanes Blood Bank, Sao Paulo, Brazil
[2] New York Blood Ctr, New York, NY 10021 USA
[3] Hosp Clin Sao Paulo, Sao Paulo, Brazil
来源：
TRANSFUSION | 2004年 / 44卷 / 09期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：117A / 117A
页数：1
相关论文
共 50 条
  • [31] A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy
    Sullivan, Lori S.
    Baylin, Eric B.
    Font, Ramon
    Daiger, Stephen P.
    Pepose, Jay S.
    Clinch, Thomas E.
    Nakamura, Hisashi
    Zhao, Xinping C.
    Yee, Richard W.
    MOLECULAR VISION, 2007, 13 (103-04): : 975 - 980
  • [32] A novel mutation of the keratin 12 gene responsible for a severe phenotype of Meesmanns corneal dystrophy.
    Yee, RW
    Sullivan, LS
    Baylin, EB
    Font, R
    Pepose, JS
    Clinch, T
    Xu, X
    Daiger, SP
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2000, 41 (04) : S538 - S538
  • [33] Kell and XK immunohistochemistry in McLeod myopathy
    Jung, HH
    Russo, D
    Redman, C
    Brandner, S
    MUSCLE & NERVE, 2001, 24 (10) : 1346 - 1351
  • [34] A novel mutation in the frataxin gene is associated with a novel phenotype
    Spacey, SD
    Szczygielski, BI
    Hukin, J
    Selby, K
    Snutch, TP
    ANNALS OF NEUROLOGY, 2002, 52 (03) : S35 - S36
  • [35] Huntingtonism and bilateral basal ganglia hypointensity in a male with an XK variant but no McLeod red cell phenotype
    Yu, J.
    Walker, R.
    Danek, A.
    Westhoff, C.
    Vege, S.
    Itin, I.
    MOVEMENT DISORDERS, 2023, 38 : S520 - S521
  • [36] McLeod Syndrome: A Previously Unreported XK Genotype
    Bhansali, Deepty
    Bocian, Maureen
    Westhoff, Connie M.
    Tran, Minh Ha
    AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 2013, 140 : 63 - 63
  • [37] New XK Deletion Associated with McLeod Syndrome
    DoedeMaindreville, A.
    Jouret, G.
    Landais, E.
    Feucher, P.
    Bakchine, S.
    Gaillard, D.
    Lebre, A. S.
    MOVEMENT DISORDERS, 2017, 32
  • [38] McLeod syndrome: a novel mutation in an Italian patient
    Cittadella, R.
    De Marco, E. V.
    Tartara, E.
    Piccolo, G.
    Cortese, A.
    Ricca, I.
    Terzaghi, M.
    Benna, P.
    Galimberti, C. A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 397 - 397
  • [39] 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
  • [40] McLeod phenotype without the McLeod syndrome
    Walker, Ruth H.
    Danek, Adrian
    Uttner, Ingo
    Offner, Robert
    Reid, Marion
    Lee, Soohee
    TRANSFUSION, 2007, 47 (02) : 299 - 305
12345