Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review.

Ghasemi, Aida; Sadr, Zahra; Babanejad, Mojgan; Rohani, Mohammad; Alavi, Afagh

Ghasemi, Aida; Sadr, Zahra; Babanejad, Mojgan; Rohani, Mohammad; Alavi, Afagh.

Afiliação

Ghasemi A; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Sadr Z; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Babanejad M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Rohani M; Department of Neurology, Iran University of Medical Sciences, Hazrat Rasool Hospital, Tehran, Iran.
Alavi A; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Mol Syndromol ; 14(6): 477-484, 2023 Dec.

Article em En | MEDLINE | ID: mdl-38058755

Palavras-chave

Copy number variation; GermlineCNVCaller; Hereditary spastic paraplegia; SPAST deletion; Whole-exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2023 Tipo de documento: Article