Search for sequence variations in the NDUFA1 gene of complex I deficient patients.

被引:0
|
作者
Wittig, I
Augstein, P
Brown, GK
Fujii, T
Roetig, A
Rustin, P
Seibel, P
Thorburn, D
Wissinger, B
Tensing, K
Metspalu, A
Lamantea, E
Zeviani, M
Goto, Y
Wehnert, M
机构
[1] Univ Greifswald, Inst Human Genet, Greifswald, Germany
[2] Inst Diabet, Karlsburg, Germany
[3] Univ Oxford, Dept Biochem, Genet Lab, Oxford OX1 3QU, England
[4] Shiga Med Ctr Children, Dept Pediat, Shiga, Japan
[5] Hosp Enfants Malad, Paris, France
[6] Res Grp Neurobiol & Cell Biol, Dresden, Germany
[7] Murdoch Inst, Melbourne, Vic, Australia
[8] Eye Clin, Tubingen, Germany
[9] Inst Mol & Cell Biol, Tartu, Estonia
[10] Inst Neurol, Milan, Italy
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
2683
引用
收藏
页码:A472 / A472
页数:1
相关论文
共 50 条
  • [31] GENE STRUCTURE, SEQUENCE, AND A POINT MUTATION IN THE PKD1 GENE, AND SEARCH FOR POINT MUTATIONS
    GENG, L
    ZHANG, F
    SCHNEIDER, MC
    POHLSCHMIDT, M
    ZHOU, J
    ZHAO, H
    TOROSIAN, S
    LOHNING, C
    KOVATS, S
    FRISCH, AM
    FU, YH
    REEDERS, ST
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 1994, 5 (03): : 622 - 622
  • [32] Genotype dependent variations of galactose-1-phosphate concentrations in galactosemic patients.
    Guerrero, Ruben Bonilla
    Minnich, Sara J.
    Raymond, Kimiyo
    Matern, Dietrich
    McDonald, Amber M.
    Highsmith, W. Edward
    O'Brien, John F.
    MOLECULAR GENETICS AND METABOLISM, 2008, 93 (03) : 243 - 243
  • [33] Variations of the perforin gene in patients with type 1 diabetes
    Orilieri, Elisabetta
    Cappellano, Giuseppe
    Clementi, Rita
    Cometa, Angela
    Ferretti, Massimo
    Cerutti, Elisa
    Cadario, Francesco
    Martinetti, Miryam
    Larizza, Daniela
    Calcaterra, Valeria
    D'Annunzio, Giuseppe
    Lorini, Renata
    Cerutti, Franco
    Bruno, Graziella
    Chiocchetti, Annalisa
    Dianzani, Umberto
    DIABETES, 2008, 57 (04) : 1078 - 1083
  • [34] Simple sequence variations and molecular evolution in the WFS1 gene.
    Sivakumaran, TA
    Li, S
    Zhang, J
    Burmeister, M
    Lesperance, MM
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 474 - 474
  • [35] Association between β arrestin 2 and filamin A gene variations with medical treatment response in acromegaly patients.
    Akdemir, Ayse Seda
    Metin Armagan, Derya
    Polat Korkmaz, Ozge
    Ozkaya, Hande Mefkure
    Kadioglu, Pinar
    Gazioglu, Nurperi
    Tanriover, Necmettin
    Dirican, Ahmet
    Ozturk, Melek
    MINERVA ENDOCRINOLOGY, 2021,
  • [36] The Complex I Subunit NDUFA10 Selectively Rescues Drosophila pink1 Mutants through a Mechanism Independent of Mitophagy
    Pogson, Joe H.
    Ivatt, Rachael M.
    Sanchez-Martinez, Alvaro
    Tufi, Roberta
    Wilson, Emma
    Mortiboys, Heather
    Whitworth, Alexander J.
    PLOS GENETICS, 2014, 10 (11)
  • [37] Allelic variations in the human growth hormone-1 gene promoter of growth hormone-deficient patients and normal controls
    Wagner, JK
    Eble, A
    Cogan, JD
    Prince, MA
    Phillips, JA
    Mullis, PE
    EUROPEAN JOURNAL OF ENDOCRINOLOGY, 1997, 137 (05) : 474 - 481
  • [38] Mixed sandwich for measurement of troponin I - Troponin C complex in the serum of AMI patients.
    Beresnikova, A
    Katrukha, A
    Filatov, V
    Esakova, T
    Trifonov, I
    Gratciansky, N
    Bulargina, T
    Pettersson, K
    Lovgren, T
    CLINICAL CHEMISTRY, 1998, 44 : A122 - A122
  • [39] Chiari malformation Type I surgery in pediatric patients. Part 1: validation of an ICD-9-CM code search algorithm
    Ladner, Travis R.
    Greenberg, Jacob K.
    Guerrero, Nicole
    Olsen, Margaret A.
    Shannon, Chevis N.
    Yarbrough, Chester K.
    Piccirillo, Jay F.
    Anderson, Richard C. E.
    Feldstein, Neil A.
    Wellons, John C., III
    Smyth, Matthew D.
    Park, Tae Sung
    Limbrick, David D., Jr.
    JOURNAL OF NEUROSURGERY-PEDIATRICS, 2016, 17 (05) : 519 - 524
  • [40] Induction of the Mitochondrial NDUFA4L2 Protein by HIF-1α Decreases Oxygen Consumption by Inhibiting Complex I Activity
    Tello, Daniel
    Balsa, Eduardo
    Acosta-Iborra, Barbara
    Fuertes-Yebra, Esther
    Elorza, Ainara
    Ordonez, Angel
    Corral-Escariz, Maria
    Soro, Ines
    Lopez-Bernardo, Elia
    Perales-Clemente, Ester
    Martinez-Ruiz, Antonio
    Antonio Enriquez, Jose
    Aragones, Julian
    Cadenas, Susana
    Landazuri, Manuel O.
    CELL METABOLISM, 2011, 14 (06) : 768 - 779