False deletion of the D15S986 maternal allele in a suspected case of Angelman syndrome-Reference-Cited by-同舟云学术

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False deletion of the D15S986 maternal allele in a suspected case of Angelman syndrome

Published:2015-01 Issue: Volume:439 Page:191-194
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Curcio Michele,Presciuttini Silvano

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference21 articles.

1. Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation;Williams;Am J Med Genet,1995

2. ‘Puppet children’: a report of three cases;Angelman;Dev Med Child Neurol,1965

3. Angelman syndrome 2005: updated consensus for diagnostic criteria;Williams;Am J Med Genet A,2006

4. Clinical and genetic aspects of Angelman syndrome;Williams;Genet Med,2010

5. Angelman syndrome (AS, MIM 105830);Van Buggenhout;Eur J Hum Genet,2009

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1. Specific mutations in mammalian P4-ATPase ATP8A2 catalytic subunit entail differential glycosylation of the accessory CDC50A subunit;FEBS Letters;2015-11-22

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