Mutation in Brief

You have free access to this content

A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism†

  1. Jie Qiao1,‡,*,
  2. Bing Han2,‡,
  3. Bing-Li Liu2,‡,
  4. Xia Chen3,‡,
  5. Ying Ru2,‡,
  6. Kai-Xiang Cheng1,
  7. Fu-Guo Chen1,
  8. Shuang-Xia Zhao2,
  9. Jun Liang4,
  10. Ying-Li Lu1,
  11. Jin-Feng Tang1,
  12. Yi-Xin Wu2,
  13. Wan-Ling Wu1,
  14. Jia-Lun Chen2,
  15. Ming-Dao Chen2,
  16. Huai-Dong Song2,*

Article first published online: 23 JUN 2009

DOI: 10.1002/humu.21072

Issue

Human Mutation

Human Mutation

Volume 30, Issue 9, pages E855–E865, September 2009

Additional Information

How to Cite

Qiao, J., Han, B., Liu, B.-L., Chen, X., Ru, Y., Cheng, K.-X., Chen, F.-G., Zhao, S.-X., Liang, J., Lu, Y.-L., Tang, J.-F., Wu, Y.-X., Wu, W.-L., Chen, J.-L., Chen, M.-D. and Song, H.-D. (2009), A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism. Hum. Mutat., 30: E855–E865. doi: 10.1002/humu.21072

Author Information

  1. 1

    Department of Endocrinology, Research Center of Tissue Engineering, Department of Plastic Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China

  2. 2

    State Key Laboratory of Medical Genomics, Molecular Medical Center, Shanghai Institute of Endocrinology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China

  3. 3

    Department of Gerontology, The First Affiliated Hospital of Nanjing Medical University, NanJing 210029, China

  4. 4

    Department of Endocrinology, Central Hospital of Xuzhou, Xuzhou, Jiangsu 221009, China

  1. ‡

    These authors contributed equally to this work.

*Department of Endocrinology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China

  1. †

    Communicated by Bruce Gottlieb

Publication History

  1. Issue published online: 26 AUG 2009
  2. Article first published online: 23 JUN 2009
  3. Manuscript Accepted: 4 JUN 2009
  4. Manuscript Received: 22 FEB 2009

Funded by

  • National Natural Science Foundation Program, People's Republic of China. Grant Number: 30600297

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

Get PDF (1235K)

Cited in:

CrossRef

This article has been cited by:

  1. 1
    K.M.J. Menon, Bindu Menon, Structure, function and regulation of gonadotropin receptors – A perspective, Molecular and Cellular Endocrinology, 2012, 356, 1-2, 88

    CrossRef

  2. 2
    B. Han, Z.-q. Wang, L.-q. Xue, J.-h. Ma, W. Liu, B.-l. Liu, J.-j. Wu, C.-m. Pan, X. Chen, S.-x. Zhao, Y.-l. Lu, W.-l. Wu, J. Qiao, H.-d. Song, Functional study of an aberrant splicing variant of the human luteinizing hormone (LH) receptor, Molecular Human Reproduction, 2011, 18, 3, 129

    CrossRef

  3. 3
    C. L. Newton, A. M. Whay, C. A. McArdle, M. Zhang, C. J. van Koppen, R. van de Lagemaat, D. L. Segaloff, R. P. Millar, Rescue of expression and signaling of human luteinizing hormone G protein-coupled receptor mutants with an allosterically binding small-molecule agonist, Proceedings of the National Academy of Sciences, 2011, 108, 17, 7172

    CrossRef

  4. 4
    J.-Y. Fan, B. Han, J. Qiao, B.-L. Liu, Y.-R. Ji, S.-F. Ge, H.-D. Song, X.-Q. Fan, Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), Mutagenesis, 2010, 26, 2, 283

    CrossRef

Get PDF (1235K)