Identification of a novel variant in MECOM gene as cause of isolated bone marrow failure

被引:0
|
作者
Ammeti, Daniele [1 ]
Bresolin, Silvia [2 ]
Gabelli, Maria [2 ]
Zanchetta, Melania Eva [1 ]
Tretti-Parenzan, Caterina [2 ]
Bottega, Roberta [1 ]
Capaci, Valeria [1 ]
Biffi, Alessandra [2 ]
Savoia, Anna [3 ]
Marzollo, Antonio [2 ]
Faleschini, Michela [1 ]
机构
[1] IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Trieste, Italy
[2] Padua Univ & Hosp, Oncol & Stem Cell Transplant Div, Women & Child Hlth Dept, Paediat Haematol, Padua, Italy
[3] Univ Verona, Verona, Italy
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
P08.024.D
引用
收藏
页码:449 / 449
页数:1
相关论文
共 50 条
  • [31] Identification of a novel HLA-A*24 variant in a Maldivian family with a bone marrow patient, by sequence based typing
    Cervelli, Carla
    Canossi, Angelica
    Azzarone, Raffaella
    Scimitarra, Maria
    Fracassi, Daniela
    Battistoni, Carla
    Di Iulio, Barbara
    Scarnecchia, Maria Assunta
    Papola, Franco
    TISSUE ANTIGENS, 2010, 75 (05): : 513 - 513
  • [32] A novel cause of DKC1-related bone marrow failure: Partial deletion of the 3′ untranslated region
    Arthur, Jonathan W.
    Pickett, Hilda A.
    Barbaro, Pasquale M.
    Kilo, Tatjana
    Vasireddy, Raja S.
    Beilharz, Traude H.
    Powell, David R.
    Hackett, Emma L.
    Bennetts, Bruce
    Curtin, Julie A.
    Jones, Kristi
    Christodoulou, John
    Reddel, Roger R.
    Teo, Juliana
    Bryan, Tracy M.
    EJHAEM, 2021, 2 (02): : 157 - 166
  • [33] Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes
    Galvez, Eva
    Vallespin, Elena
    Arias-Salgado, Elena G.
    Sanchez-Valdepenas, Carmen
    Gimenez, Yari
    Navarro, Susana
    Rio, Paula
    Bogliolo, Massimo
    Pujol, Roser
    Peiro, Montserrat
    Nevado, Julian
    Zubicaray, Josune
    Sebastian, Elena
    Catala, Albert
    Belendez, Cristina
    Diaz de Heredia, Cristina
    Galera, Ana
    Badell, Isabel
    Madero, Luis
    Perona, Rosario
    Sastre, Leandro
    Surralles, Jordi
    Bueren, Juan
    Lapunzina, Pablo
    Sevilla, Julian
    HEMASPHERE, 2021, 5 (04):
  • [34] NOVEL 3Q26 DELETION BONE MARROW FAILURE SYNDROME IN A NEWBORN RESULTING IN DOMINANT NEGATIVE INTERFERENCE OF HEMATOPOIESIS BY TRUNCATED EVI1/MECOM
    Van Der Veken, L.
    Bierings, M.
    Maiburg, M.
    Groenendaal, F.
    Bloem, A.
    Knoers, N.
    Buijs, A.
    HAEMATOLOGICA, 2013, 98 : 86 - 87
  • [35] Identification of a Variant in APOB Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families
    Ayoub, Carine
    Azar, Yara
    Abou-Khalil, Yara
    Ghaleb, Youmna
    Elbitar, Sandy
    Halaby, Georges
    Jambart, Selim
    Gannage-Yared, Marie-Helene
    Yaghi, Cesar
    Riachy, Carole Saade
    El Khoury, Ralph
    Rabes, Jean-Pierre
    Varret, Mathilde
    Boileau, Catherine
    El Khoury, Petra
    Abifadel, Marianne
    METABOLITES, 2021, 11 (09)
  • [36] Identification of novel variant A alleles within the ABO gene
    Fichou, Yann
    Hennion, Michel
    Dupont, Isabelle
    Jamet, Deborah
    Le Marechal, Cedric
    Ferec, Claude
    TRANSFUSION, 2016, 56 (05) : 1244 - 1246
  • [37] Identification of a novel HLA-A*01 variant, HLA-A*01:211, in a Singaporean Malay bone marrow donor
    Kaur, Ashminder
    Cho, Louise
    Cereb, Nezih
    Lin, Py-Yu
    Yang, Kuo-Liang
    HLA, 2020, 96 (03) : 329 - 330
  • [38] Transcobalamin (TC) deficiency-Potential cause of bone marrow failure in childhood
    Prasad, C.
    Rosenblatt, D. S.
    Corley, K.
    Cairney, A. E. L.
    Rupar, C. A.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 : S287 - S292
  • [39] Pancytopenia, splenomegaly, and mild bony abnormalities secondary to novel variants in thromboxane synthetase: An unusual cause of bone marrow failure
    Kowalczyk, Alexandra
    Chopra, Yogi Raj
    Saleh, Maha
    Colaiacovo, Samantha
    Dror, Yigal
    Leppington, Sarah
    Tole, Soumitra
    PEDIATRIC BLOOD & CANCER, 2023, 70 (06)
  • [40] Identification of TINF2 gene mutations in adult Japanese patients with acquired bone marrow failure syndromes
    Yamaguchi, Hiroki
    Inokuchi, Koiti
    Takeuchi, Junko
    Tamai, Hayato
    Mitamura, Yoshio
    Kosaka, Fumiko
    Ly, Hinh
    Dan, Kazuo
    BRITISH JOURNAL OF HAEMATOLOGY, 2010, 150 (06) : 725 - 727