Autosomal-Dominant Striatal Degeneration Is Caused by a Mutation in the Phosphodiesterase 8B Gene-Reference-Cited by-同舟云学术

Autosomal-Dominant Striatal Degeneration Is Caused by a Mutation in the Phosphodiesterase 8B Gene

Published:2010-01 Issue:1 Volume:86 Page:83-87
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Appenzeller Silke,Schirmacher Anja,Halfter Hartmut,Bäumer Sebastian,Pendziwiat Manuela,Timmerman Vincent,De Jonghe Peter,Fekete Klára,Stögbauer Florian,Lüdemann Peter,Hund Margret,Quabius Elgar Susanne,Ringelstein E. Bernd,Kuhlenbäumer Gregor

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference10 articles.

1. Autosomal dominant striatal degeneration (ADSD): Clinical description and mapping to 5q13-5q14;Kuhlenbäumer;Neurology,2004

2. Cyclic nucleotide phosphodiesterases: Molecular regulation to clinical use;Bender;Pharmacol. Rev.,2006

3. Comparison of enzymatic characterization and gene organization of cyclic nucleotide phosphodiesterase 8 family in humans;Gamanuma;Cell. Signal.,2003

4. Genomic organization, chromosomal localization, and alternative splicing of the human phosphodiesterase 8B gene;Hayashi;Biochem. Biophys. Res. Commun.,2002

5. A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: A novel PDE8B isoform in human adrenal cortex;Horvath;Eur. J. Hum. Genet.,2008

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