Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing

By making use of positional cloning strategies we recently isolated a candidate gene for choroideremia (CHM), which is transcribed in retina, choroid, and/or retinal pigment epithelium. The gene contains an open reading frame that is structurally altered in 10 CHM patients with sizable deletions and...

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Hlavní autoři: van den Hurk, J. A. J. M., van de Pol, T. J. R., Molloy, C. M., Brunsmann, F., Rüther, K., Zrenner, E., Pinckers, A. J. L. G., Pawlowitzki, I. H., Bleeker-Wagemakers, E. M., Wieringa, B., Ropers, H. -H., Cremers, F. P. M.
Médium: Artigo
Jazyk:Inglês
Vydáno: 1992
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682553/
https://ncbi.nlm.nih.gov/pubmed/1598901
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