Skip to main content
SpringerLink
Log in

The mutation spectrum in Indian patients with Gaucher disease

  • Poster presentation
  • Published:
Genome Biology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Hatton CE, Cooper A, Whitehouse C, Wraith JE: Mutation analysis in 46 British and Irish patients with Gaucher’s disease.Arch Dis Child 1997, 77:17–22.

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  2. Rozenberg R, Araujo FT, Fox DC, Aranda P, Nonino A, Micheletti C, Martins AM, Cravo R, Sobreira E, Pereisa LV: High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients.Braz J Med Biol Res 2006, 39:1171–1179.

    Article  PubMed  CAS  Google Scholar 

  3. Tayebi N, Stern H, Dymarskaia I, Herman J, Sidransky E: 55-Base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.Am J Med Genet 1996, 66:316–319.

    Article  PubMed  CAS  Google Scholar 

  4. Drugan C, Procopciuc L, Jebeleanu G, Grigorescu-Sido P, Dussau J, Poenaru L, Caillaud C: Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations.Eur J Hum Genet 2002, 10:511–515.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Genetics Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India

    Vartika Bisariya, Madhumita Roy Chaudhari, Neerja Gupta & Madhulika Kabra

  2. Yale University School of Medicine, New Haven, USA

    Pramod K Mistry & Jun Liu

Authors
  1. Vartika Bisariya
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Pramod K Mistry
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Jun Liu
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Madhumita Roy Chaudhari
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Neerja Gupta
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Madhulika Kabra
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Bisariya, V., Mistry, P.K., Liu, J. et al. The mutation spectrum in Indian patients with Gaucher disease. Genome Biol 12 (Suppl 1), P26 (2011). https://doi.org/10.1186/1465-6906-12-S1-P26

Download citation

  • Published:

  • DOI: https://doi.org/10.1186/1465-6906-12-S1-P26

Keywords

Search

Navigation