Linking C5 deficiency to an ESE mutation

被引:0
|
作者
Pfarr, N
Prawitt, D
Schroff, C
Knuf, M
Habermehl, P
Mannhardt, W
Loos, M
Pohlenz, J
Kirschfink, M
机构
[1] Univ Mainz, Childrens Hosp, Mainz, Germany
[2] Univ Mainz, Inst Hyg & Microbiol, Mainz, Germany
[3] Univ Heidelberg, Inst Immunol, Heidelberg, Germany
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
202
引用
收藏
页码:293 / 293
页数:1
相关论文
共 50 条
  • [1] Linking C5 deficiency to an exonic splicing enhancer mutation
    Pfarr, N
    Prawitt, D
    Kirschfink, M
    Schroff, C
    Knuf, M
    Habermehl, P
    Mannhardt, W
    Zepp, F
    Fairbrother, W
    Loos, M
    Burge, CB
    Pohlenz, J
    JOURNAL OF IMMUNOLOGY, 2005, 174 (07): : 4172 - 4177
  • [2] Linking C5 deficiency to an exonic splicing enhancer mutation (vol 174, pg 4172, 2005)
    Pfarr, N.
    Prawitt, D.
    Kirschfink, M.
    Schroff, C.
    Knuf, M.
    Habermehl, P.
    Mannhardt, W.
    Zepp, F.
    Fairbrother, William G.
    Loos, M.
    Burge, C. B.
    Pohlenz, J.
    JOURNAL OF IMMUNOLOGY, 2009, 182 (08): : 5152 - 5152
  • [3] A novel mutation in C5 deficiency identified by exome sequencing
    Schejbel, L.
    Lappegaard, K. T.
    Mollnes, T. E.
    Garred, P.
    MOLECULAR IMMUNOLOGY, 2013, 56 (03) : 296 - 296
  • [4] Molecular characterisation of a C5 deficiency caused by a de novo mutation
    Lopez-Leral, Alberto
    Garrido-Herrero, Sofia
    Mena de la Cruz, Rocio
    Manuel Ramos, Jose
    Fontan, Gumersindo
    Lopez-Trascasa, Margarita
    MOLECULAR IMMUNOLOGY, 2008, 45 (16) : 4132 - 4133
  • [5] A novel mutation and different mrna forms in a familial complement C5 deficiency
    Pérez, MAG
    Aznar, R
    Martinez, LMA
    de Pacho, MA
    Pérez, PM
    Artal, EP
    MOLECULAR IMMUNOLOGY, 2003, 40 (2-4) : 225 - 225
  • [6] C5 DEFICIENCY IN A WHITE FAMILY
    BOELAERT, J
    JOOS, R
    CRIEL, A
    VANLANDUYT, HW
    DAHA, MR
    ARCHIVES OF INTERNAL MEDICINE, 1985, 145 (07) : 1333 - 1334
  • [7] LEINERS DISEASE AND DEFICIENCY OF C5
    MILLER, ME
    KOBLENZE.PJ
    JOURNAL OF PEDIATRICS, 1972, 80 (05): : 879 - +
  • [8] LEINERS DISEASE AND C5 DEFICIENCY
    AMMANN, AJ
    JOURNAL OF PEDIATRICS, 1972, 81 (06): : 1221 - +
  • [9] C5 Complement Deficiency in a Saudi Family, Molecular Characterization of Mutation and Literature Review
    Arnaout, Rand
    Al Shorbaghi, Sahar
    Al Dhekri, Hasan
    Al-Mousa, Hamoud
    Al Ghonaium, Abdulaziz
    Al Saud, Bandar
    Al Muhsen, Saleh
    Al Baik, Lina
    Hawwari, Abbas
    JOURNAL OF CLINICAL IMMUNOLOGY, 2013, 33 (04) : 871 - 875
  • [10] C5 Complement Deficiency in a Saudi Family, Molecular Characterization of Mutation and Literature Review
    Rand Arnaout
    Sahar Al Shorbaghi
    Hasan Al Dhekri
    Hamoud Al-Mousa
    Abdulaziz Al Ghonaium
    Bandar Al Saud
    Saleh Al Muhsen
    Lina Al Baik
    Abbas Hawwari
    Journal of Clinical Immunology, 2013, 33 : 871 - 875