A Deep Intronic, Pathogenic Variant in <i>DNAH11</i> Causes Primary Ciliary Dyskinesia.

Shapiro, Adam J; Stonebraker, Jaclyn R; Knowles, Michael R; Zariwala, Maimoona A

A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia.

Shapiro, Adam J; Stonebraker, Jaclyn R; Knowles, Michael R; Zariwala, Maimoona A.

Afiliação

Shapiro AJ; McGill University Health Centre Research Institute Montreal, Quebec, Canada.
Stonebraker JR; University of North Carolina School of Medicine Chapel Hill, North Carolina.
Knowles MR; University of North Carolina School of Medicine Chapel Hill, North Carolina.
Zariwala MA; University of North Carolina School of Medicine Chapel Hill, North Carolina.

Am J Respir Cell Mol Biol ; 67(4): 511-514, 2022 Oct.

Article em En | MEDLINE | ID: mdl-36178856

Assuntos

Dineínas do Axonema; Síndrome de Kartagener; Cílios; Humanos; Mutação/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Kartagener / Dineínas do Axonema Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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