Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2

The Coffin-Lowry syndrome (CLS) is an X-linked inherited disease of unknown pathogenesis characterized by severe mental retardation, typical facial and digital anomalies, and progressive skeletal deformations. Our previous linkage analysis, based on four pedigrees with the disease, suggested a local...

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Bibliografiset tiedot
Päätekijät: Biancalana, V., Briard, M. L., David, A., Gilgenkrantz, S., Kaplan, J., Mathieu, M., Piussan, C., Poncin, J., Schinzel, A., Oudet, C., Hanauer, A.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1992
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Original Articles
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682597/
https://ncbi.nlm.nih.gov/pubmed/1349200
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