De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia.

Gombosh, Maya; Yogev, Yuval; Hadar, Noam; Proskorovski-Ohayon, Regina; Aharoni, Sarit; Gradstein, Libe; Birk, Ohad S

Gombosh, Maya; Yogev, Yuval; Hadar, Noam; Proskorovski-Ohayon, Regina; Aharoni, Sarit; Gradstein, Libe; Birk, Ohad S.

Afiliação

Gombosh M; The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.
Yogev Y; The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.
Hadar N; The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.
Proskorovski-Ohayon R; The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.
Aharoni S; The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.
Gradstein L; Department of Ophthalmology, Soroka Medical Center and Clalit Health Services, Ben-Gurion University, Beer-Sheva, Israel.
Birk OS; The Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.

Clin Genet ; 104(5): 571-576, 2023 11.

Article em En | MEDLINE | ID: mdl-37308324

Assuntos

Mutação em Linhagem Germinativa; Miopia; Humanos; Heterozigoto; Mutação; Miopia/genética; Deleção de Sequência

Palavras-chave

RBP3; autosomal recessive; deletion mutation; loss of heterozygosity

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação em Linhagem Germinativa / Miopia Limite: Humans Idioma: En Revista: Clin Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Israel

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