SciELO - Scientific Electronic Library Online

 
vol.23 issue2Barber-Say syndrome: further delineation of the clinical spectrumCockayne syndrome: report of a Brazilian family with confirmation of impaired RNA synthesis after UV-irradiation author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

Related links

Share


Genetics and Molecular Biology

Print version ISSN 1415-4757On-line version ISSN 1678-4685

Abstract

COELHO, Janice Carneiro  and  GIUGLIANI, Roberto. Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendations. Genet. Mol. Biol. [online]. 2000, vol.23, n.2, pp.269-271. ISSN 1415-4757.  https://doi.org/10.1590/S1415-47572000000200004.

Skin biopsies are frequently indicated for investigation and/or confirmation of genetic disorders. Although relatively simple and noninvasive, these procedures require care in order to increase probability of success and to avoid patient discomfort and unnecessary repeated analyses and associated laboratory fees. The present report highlights the importance of skin biopsies in genetic disorder diagnosis and presents general rules for collecting, storing, transporting and processing samples. We recommend its reading to professionals intending to use this important and sometimes fundamental diagnostic tool.

        · abstract in Portuguese     · text in English     · English ( pdf )

 

Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License