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PONTOCEREBELLAR HYPOPLASIA, TYPE 1B

Known as: PCH1B 
National Institutes of Health

Related topics

Related topics

14 relations
Autosomal recessive inheritanceCerebellar atrophyCerebral atrophyFoot Deformities

Papers overview

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2013
2013
Disruption of RNA Processing in Pontocerebellar Hypoplasia with Spinal Muscular Atrophy (PCH1B) (P05.047)
OBJECTIVE: To test the hypothesis that PCH1-causing mutations in EXOSC3 disrupts normal exosome function in RNA processing and… 
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