Mutations in the FTSJ1 Gene Coding for a Novel S-Adenosylmethionine–Binding Protein Cause Nonsyndromic X-Linked Mental Retardation

Nonsyndromic X-linked mental retardation (NSXLMR) is a very heterogeneous condition, and most of the underlying gene defects are still unknown. Recently, we have shown that ∼30% of these genes cluster on the proximal Xp, which prompted us to perform systematic mutation screening in brain-expressed g...

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Hauptverfasser: Freude, Kristine, Hoffmann, Kirsten, Jensen, Lars-Riff, Delatycki, Martin B., des Portes, Vincent, Moser, Bettina, Hamel, Ben, van Bokhoven, Hans, Moraine, Claude, Fryns, Jean-Pierre, Chelly, Jamel, Gécz, Jozef, Lenzner, Steffen, Kalscheuer, Vera M., Ropers, Hans-Hilger
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society of Human Genetics 2004
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1216064/
https://ncbi.nlm.nih.gov/pubmed/15162322
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