Accurate diagnosis of spinal muscular atrophy and 22q11.2 deletion syndrome using limited deoxynucleotide triphosphates and high-resolution melting.

Zhang, Xiaoqing; Wang, Bo; Zhang, Lichen; You, Guoling; Palais, Robert A; Zhou, Luming; Fu, Qihua

Zhang, Xiaoqing; Wang, Bo; Zhang, Lichen; You, Guoling; Palais, Robert A; Zhou, Luming; Fu, Qihua.

Afiliação

Zhang X; Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, People's Republic of China.
Wang B; Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, People's Republic of China.
Zhang L; Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, People's Republic of China.
You G; Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, People's Republic of China.
Palais RA; Department of Mathematics, Utah Valley University, Orem, UT, USA.
Zhou L; Department of Pathology, University of Utah Medical School, 50 N. Medical Drive, Salt Lake City, UT, 84132, USA.
Fu Q; Department of Pathology, University of Utah Medical School, 50 N. Medical Drive, Salt Lake City, UT, 84132, USA. luming.zhou@path.utah.edu.

BMC Genomics ; 19(1): 485, 2018 Jun 20.

Article em En | MEDLINE | ID: mdl-29925309

Assuntos

Cromossomos Humanos Par 22/genética; Variações do Número de Cópias de DNA/genética; Síndrome de DiGeorge/genética; Atrofia Muscular Espinal/diagnóstico; Atrofia Muscular Espinal/genética; Proteínas Adaptadoras de Transdução de Sinal/genética; Cadeias Pesadas de Clatrina/genética; Regulador de Condutância Transmembrana em Fibrose Cística/genética; Humanos; Antígenos de Histocompatibilidade Menor/genética; Fosfotransferases (Aceptor do Grupo Álcool)/genética; Proteína 1 de Sobrevivência do Neurônio Motor/genética

Palavras-chave

22q11.2 deletion syndrome; Copy number variation; High-resolution melting; Spinal muscular atrophy

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 22 / Atrofia Muscular Espinal / Síndrome de DiGeorge / Variações do Número de Cópias de DNA Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: BMC Genomics Assunto da revista: GENETICA Ano de publicação: 2018 Tipo de documento: Article

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