PDHA1 mutations and continued clinical and genetic heterogeneity: Are there gender differences?

被引:0
|
作者
Emrick, Lisa [1 ]
Tang, Sha [1 ]
Emrick, Lisa [1 ]
Lee, Inn-Chi [1 ,2 ]
Wang, Guoli [1 ]
Li, Fangyuan [1 ]
Weng, Shao-Wen [3 ]
Craigen, William J. [1 ]
Wong, Lee-Jun C. [1 ]
机构
[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[2] Chung Shan Med Univ, Chung Shan Med Univ Hosp, Coll Med, Dept Pediat,Div Pediat Neurol,Inst Med, Taichung, Taiwan
[3] Chang Gung Univ, Coll Med, Chang Gung Mem Hosp, Dept Internal Med,Kaohsiung Med Ctr, Kaohsiung, Taiwan
关键词
D O I
10.1016/j.mito.2012.07.029
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
31
引用
收藏
页码:561 / 561
页数:1
相关论文
共 50 条
  • [31] AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria
    Amoroso, A
    Pirulli, D
    Florian, F
    Puzzer, D
    Boniotto, M
    Crovella, S
    Zezlina, S
    Spanò, A
    Mazzola, G
    Savoldi, S
    Ferrettini, C
    Berutti, S
    Petrarulo, M
    Marangella, M
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2001, 12 (10): : 2072 - 2079
  • [32] Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex
    Kirschner, LS
    Sandrini, F
    Monbo, J
    Lin, JP
    Carney, JA
    Stratakis, CA
    HUMAN MOLECULAR GENETICS, 2000, 9 (20) : 3037 - 3046
  • [33] A CLINICAL AND GENETIC-STUDY OF HUNTERS SYNDROME .1. HETEROGENEITY
    YOUNG, ID
    HARPER, PS
    ARCHER, IM
    NEWCOMBE, RG
    JOURNAL OF MEDICAL GENETICS, 1982, 19 (06) : 401 - 407
  • [34] Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations
    Shah, Mital
    Broadgate, Suzanne
    Shanks, Morag
    Clouston, Penny
    Yu, Jing
    MacLaren, Robert E.
    Nemeth, Andrea H.
    Halford, Stephanie
    Downes, Susan M.
    JAMA OPHTHALMOLOGY, 2020, 138 (05) : 544 - 551
  • [35] Clinical and genetic heterogeneity in GM1 gangliosidosis patients.
    Morrone, A
    Bardelli, T
    Caciotti, A
    Gallo, R
    Bisanzi, S
    Donati, MA
    D'Azzo, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 286 - 286
  • [36] Genetic Heterogeneity and Clinical Outcome in a Swedish Family with Retinal Degeneration Caused by Mutations in CRB1 and ABCA4 Genes
    Jonsson, Frida
    Burstedt, Marie S.
    Sandgren, Ola
    Norberg, Anna
    Golovleva, Irina
    RETINAL DEGENERATIVE DISEASES: MECHANISMS AND EXPERIMENTAL THERAPY, 2014, 801 : 177 - 183
  • [37] Gender Differences in the Clinical Management of clinical T1a Renal Cell Carcinoma
    Metcalf, Meredith R.
    Cheaib, Joseph G.
    Wainger, Julia
    Pena, Vanessa N.
    Patel, Hiten D.
    Singla, Nirmish
    Pierorazio, Phillip M.
    UROLOGY, 2021, 151 : 129 - 137
  • [38] Gender differences in sclerostin and clinical characteristics in type 1 diabetes mellitus
    Catalano, Antonino
    Pintaudi, Basilio
    Morabito, Nancy
    Di Vieste, Giacoma
    Giunta, Loretta
    Bruno, Maria Lucia
    Cucinotta, Domenico
    Lasco, Antonino
    Di Benedetto, Antonino
    EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2014, 171 (03) : 293 - 300
  • [39] Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations
    Tung, Joanna Yuet-ling
    Boodhansingh, Kara
    Stanley, Charles A.
    De Leon, Diva D.
    PEDIATRIC DIABETES, 2018, 19 (05) : 910 - 916
  • [40] Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin–1 gene
    A. J. Larner
    M. Doran
    Journal of Neurology, 2006, 253 : 139 - 158