A further Turkish case of Griscelli syndrome with new RAB27A mutation

被引:6
|
作者
Onay, Huseyin [1 ]
Balkan, Can [2 ]
Cogulu, Ozgur [1 ,2 ]
Aydinok, Yesim [2 ]
Karapinar, Deniz Yilmaz [2 ]
Ozkinay, Ferda [1 ,2 ]
机构
[1] Ege Univ, Fac Med, Dept Med Genet, Izmir, Turkey
[2] Ege Univ, Fac Med, Dept Pediat, Izmir, Turkey
关键词
D O I
10.1016/j.jaad.2007.05.002
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
[No abstract available]
引用
收藏
页码:S115 / S116
页数:2
相关论文
共 50 条
  • [1] Griscelli syndrome:: Description of a case with Rab27A mutation
    Aslan, D
    Sari, S
    Derinöz, O
    Dalgiç, B
    PEDIATRIC HEMATOLOGY AND ONCOLOGY, 2006, 23 (03) : 255 - 261
  • [2] A NOVEL RAB27A MUTATION IN PATIENT WITH GRISCELLI SYNDROME TYPE 2
    Shamsian, Bibi Shahin
    Norbakhsh, Kasem
    Safari, Alieh
    Rezaei, Nima
    Gharib, Atoosa
    Purpak, Zahra
    Alavi, Samin
    Arzanian, Mohammad Taghi
    PEDIATRIC BLOOD & CANCER, 2011, 56 (04) : 699 - 699
  • [3] A Novel RAB27A Mutation in a Patient With Griscelli Syndrome Type 2
    Shamsian, B. S.
    Norbakhsh, K.
    Rezaei, N.
    Safari, A.
    Gharib, A.
    Pourpak, Z.
    Alavi, S.
    Parvaneh, N.
    Arzanian, M. T.
    JOURNAL OF INVESTIGATIONAL ALLERGOLOGY AND CLINICAL IMMUNOLOGY, 2010, 20 (07) : 612 - 615
  • [4] GRISCELLI SYNDROME TYPE 2: A NOVEL MUTATION IN RAB27A WITH UNIPARENTAL DISOMY
    Magpantay, G. G.
    Payne, K.
    Turner, C.
    Petersen, M.
    ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2013, 111 (05) : A95 - A95
  • [5] Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
    Ménasché, G
    Pastural, E
    Feldmann, J
    Certain, S
    Ersoy, F
    Dupuis, S
    Wulffraat, N
    Bianchi, D
    Fischer, A
    Le Deist, F
    de Saint Basile, G
    NATURE GENETICS, 2000, 25 (02) : 173 - 176
  • [6] Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome
    Bahadoran, P
    Busca, R
    Chiaverini, C
    Westbroek, W
    Lambert, J
    Bille, K
    Valony, G
    Fukuda, M
    Naeyaert, JM
    Ortonne, JP
    Ballotti, R
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2003, 278 (13) : 11386 - 11392
  • [7] Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
    Gaël Ménasché
    Elodie Pastural
    Jérôme Feldmann
    Stéphanie Certain
    Fügen Ersoy
    Sophie Dupuis
    Nico Wulffraat
    Diana Bianchi
    Alain Fischer
    Françoise Le Deist
    Geneviève de Saint Basile
    Nature Genetics, 2000, 25 : 173 - 176
  • [8] Griscelli syndrome:: Characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene
    Bizario, JCS
    Feldmann, J
    Castro, FA
    Ménasché, G
    Jacob, CMA
    Cristofani, L
    Casella, EB
    Voltarelli, JC
    De Saint-Basile, G
    Espreafico, EM
    JOURNAL OF CLINICAL IMMUNOLOGY, 2004, 24 (04) : 397 - 410
  • [9] Griscelli Syndrome: Characterization of a New Mutation and Rescue of T-Cytotoxic Activity by Retroviral Transfer of RAB27A Gene
    João C. S. Bizario
    Jérôme Feldmann
    Fabíola A. Castro
    Gaël Ménasché
    Cristina M. A. Jacob
    L. Cristofani
    Erasmo B. Casella
    Júlio C. Voltarelli
    Geneviève de Saint-Basile
    Enilza M. Espreafico
    Journal of Clinical Immunology, 2004, 24 : 397 - 410
  • [10] Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients
    Ménasché, G
    Feldmann, J
    Houdusse, A
    Desaymard, C
    Fischer, A
    Goud, B
    de Saint Basile, G
    BLOOD, 2003, 101 (07) : 2736 - 2742