Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations.

Coffin-Lowry syndrome (CLS) is an X-linked disorder characterized by severe psychomotor retardation, facial and digital dysmorphisms, and progressive skeletal deformations. By using a positional cloning approach, we have recently shown that mutations in the gene coding for the RSK2 serine-threonine...

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Detalhes bibliográficos
Main Authors: Jacquot, S, Merienne, K, De Cesare, D, Pannetier, S, Mandel, J L, Sassone-Corsi, P, Hanauer, A
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377634/
https://ncbi.nlm.nih.gov/pubmed/9837815
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