Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome.

Coffin-Lowry syndrome (CLS) is a syndromal form of X linked mental retardation, in which some associated facial, hand, and skeletal abnormalities are diagnostic features. Accurate diagnosis, critical for genetic counselling, is often difficult, especially in early childhood. We have recently shown t...

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Autori principali: Merienne, K, Jacquot, S, Trivier, E, Pannetier, S, Rossi, A, Scott, C, Schinzel, A, Castellan, C, Kress, W, Hanauer, A
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1998
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051479/
https://ncbi.nlm.nih.gov/pubmed/9832033
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