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International Journal of Molecular Medicine
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Print ISSN: 1107-3756 Online ISSN: 1791-244X
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Nov 1999 Volume 4 Issue 5

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Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

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Nov 1999 Volume 4 Issue 5

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Article

Germline mutations in the MEN1 gene: creation of a new splice acceptor site and insertion of 7 intron nucleotides into the mRNA.

  • Authors:
    • M Engelbach
    • T Forst
    • T Hankeln
    • M Tratzky
    • S Heerdt
    • A Pfützner
    • P Kann
    • T Kunt
    • S Schneider
    • E R Schmidt
    • J Beyer
  • View Affiliations / Copyright

    Affiliations: Department of Internal Medicine and Endocrinology, D-55131 Mainz, Germany.
  • Pages: 483-488
    |
    Published online on: November 1, 1999
       https://doi.org/10.3892/ijmm.4.5.483
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Abstract

The MEN1 tumor predisposition syndrome is caused by mutations in the MEN1 gene on human chromosome 11q13. We screened MEN1 gene exons 1-10 and flanking intron sequences from four different MEN1 families for mutations. In three families, heterozygous germline mutations within the exons were found, two of these representing novel mutations. In another family, all clinically affected members were heterozygous for a point mutation Gright curved arrow A within intron 4. Sequence analysis of cDNA from lymphocytes of the affected patients revealed that the intron mutation created a new acceptor splice site, leading to the inclusion of 7 bp of intronic sequence into the mRNA. The resulting frameshift generates a premature stop in codon 271. Intron borders should thus be screened for mutations in MEN1 diagnostics and cDNA sequence analysis is helpful in identifying pathophysiological consequences of intron mutations.

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Copy and paste a formatted citation
Spandidos Publications style
Engelbach M, Forst T, Hankeln T, Tratzky M, Heerdt S, Pfützner A, Kann P, Kunt T, Schneider S, Schmidt E, Schmidt E, et al: Germline mutations in the MEN1 gene: creation of a new splice acceptor site and insertion of 7 intron nucleotides into the mRNA.. Int J Mol Med 4: 483-488, 1999.
APA
Engelbach, M., Forst, T., Hankeln, T., Tratzky, M., Heerdt, S., Pfützner, A. ... Beyer, J. (1999). Germline mutations in the MEN1 gene: creation of a new splice acceptor site and insertion of 7 intron nucleotides into the mRNA.. International Journal of Molecular Medicine, 4, 483-488. https://doi.org/10.3892/ijmm.4.5.483
MLA
Engelbach, M., Forst, T., Hankeln, T., Tratzky, M., Heerdt, S., Pfützner, A., Kann, P., Kunt, T., Schneider, S., Schmidt, E., Beyer, J."Germline mutations in the MEN1 gene: creation of a new splice acceptor site and insertion of 7 intron nucleotides into the mRNA.". International Journal of Molecular Medicine 4.5 (1999): 483-488.
Chicago
Engelbach, M., Forst, T., Hankeln, T., Tratzky, M., Heerdt, S., Pfützner, A., Kann, P., Kunt, T., Schneider, S., Schmidt, E., Beyer, J."Germline mutations in the MEN1 gene: creation of a new splice acceptor site and insertion of 7 intron nucleotides into the mRNA.". International Journal of Molecular Medicine 4, no. 5 (1999): 483-488. https://doi.org/10.3892/ijmm.4.5.483
Copy and paste a formatted citation
x
Spandidos Publications style
Engelbach M, Forst T, Hankeln T, Tratzky M, Heerdt S, Pfützner A, Kann P, Kunt T, Schneider S, Schmidt E, Schmidt E, et al: Germline mutations in the MEN1 gene: creation of a new splice acceptor site and insertion of 7 intron nucleotides into the mRNA.. Int J Mol Med 4: 483-488, 1999.
APA
Engelbach, M., Forst, T., Hankeln, T., Tratzky, M., Heerdt, S., Pfützner, A. ... Beyer, J. (1999). Germline mutations in the MEN1 gene: creation of a new splice acceptor site and insertion of 7 intron nucleotides into the mRNA.. International Journal of Molecular Medicine, 4, 483-488. https://doi.org/10.3892/ijmm.4.5.483
MLA
Engelbach, M., Forst, T., Hankeln, T., Tratzky, M., Heerdt, S., Pfützner, A., Kann, P., Kunt, T., Schneider, S., Schmidt, E., Beyer, J."Germline mutations in the MEN1 gene: creation of a new splice acceptor site and insertion of 7 intron nucleotides into the mRNA.". International Journal of Molecular Medicine 4.5 (1999): 483-488.
Chicago
Engelbach, M., Forst, T., Hankeln, T., Tratzky, M., Heerdt, S., Pfützner, A., Kann, P., Kunt, T., Schneider, S., Schmidt, E., Beyer, J."Germline mutations in the MEN1 gene: creation of a new splice acceptor site and insertion of 7 intron nucleotides into the mRNA.". International Journal of Molecular Medicine 4, no. 5 (1999): 483-488. https://doi.org/10.3892/ijmm.4.5.483
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