The Spectrum of the Heterozygous Effect in Biallelic Mendelian Diseases-The Symptomatic Heterozygote Issue.

Kalyta, Kateryna; Stelmaszczyk, Weronika; Szczesniak, Dominika; Kotula, Lidia; Dobosz, Paula; Mroczek, Magdalena

Kalyta, Kateryna; Stelmaszczyk, Weronika; Szczesniak, Dominika; Kotula, Lidia; Dobosz, Paula; Mroczek, Magdalena.

Afiliação

Kalyta K; School of Life Sciences, FHNW-University of Applied Sciences, 4132 Muttenz, Switzerland.
Stelmaszczyk W; School of Cellular and Molecular Medicine, University of Bristol, Bristol BS8 1TD, UK.
Szczesniak D; Institute of Psychiatry and Neurology in Warsaw, Genetics Department, 02-957 Warsaw, Poland.
Kotula L; Department of Genetics, Medical University, 20-080 Lublin, Poland.
Dobosz P; Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Pawinskiego 5A, 02-106 Warsaw, Poland.
Mroczek M; University Hospital Basel, University of Basel, 4031 Basel, Switzerland.

Genes (Basel) ; 14(8)2023 07 31.

Article em En | MEDLINE | ID: mdl-37628614

Assuntos

Padrões de Herança; Conhecimento; Humanos; Heterozigoto; Herança Multifatorial; Processamento de Proteína Pós-Traducional

Palavras-chave

heterozygous effect; symptomatic carrier; symptomatic heterozygotes

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Conhecimento / Padrões de Herança Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Genes (Basel) Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Suíça

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