Data/hora: 02/06/2024 15:41:43

Provedor de dados: 	17	
País: 	United Kingdom	
Título: 	Molecular Evaluation of exons 8 and 22 of the SHANK3 gene in Autism Spectrum Disorders	
Autores: 	A L. Bossolani-Martins; F C. Rodrigues-Lisoni; M L. Nogueira; A Barbosa-Gonc&amp;#x327;alves; E H. Tajara; A C. Fett-Conte.	
Data: 	2010-02-04	
Ano: 	2010	
Palavras-chave: 	Genetics &amp; Genomics.	
Resumo: 	Autism spectrum disorders are a group of neurodevelopmental disorders with a complex and heterogeneous etiology. Studies have shown that genetic factors play an important role in the aetiology of these diseases. Recently, de novo mutations, frameshifts and deletions have been described in the SHANK3 gene, also known as ProSAP2 gene, which encodes a synaptic scaffolding protein. All the participants of this study had normal karyotypes and underwent screening for Fragile-X syndrome. Subsequently, they were analyzed by direct sequencing of different points of exons 8 and 22 of the SHANK3 gene. None of the study participants presented with changes in these regions. These findings may be due to the fact that mutations, deletions and duplications of the SHANK3 gene are rare.	
Tipo: 	Manuscript	
Identificador: 	http://precedings.nature.com/documents/4200/version/1

oai:nature.com:10101/npre.2010.4200.1

http://hdl.handle.net/10101/npre.2010.4200.1	
Fonte: 	Nature Precedings	
Fonte: 	Creative Commons Attribution 3.0 License