Candidate Genes in Testing Strategies for Linkage Analysis and Bioinformatic Sorting of Whole Genome Sequencing Data in Three Small Japanese Families with Idiopathic Superior Oblique Muscle Palsy.

Matsuo, Toshihiko; Miyaji, Mary; Hosoya, Osamu; Saito, Akira; Nakazono, Kazuyuki

Matsuo, Toshihiko; Miyaji, Mary; Hosoya, Osamu; Saito, Akira; Nakazono, Kazuyuki.

Afiliação

Matsuo T; Graduate School of Interdisciplinary Science and Engineering in Health Systems, Okayama University, Okayama 700-8558, Japan.
Chaomulige; Department of Ophthalmology, Okayama University Hospital, Okayama 700-8558, Japan.
Miyaji M; Graduate School of Interdisciplinary Science and Engineering in Health Systems, Okayama University, Okayama 700-8558, Japan.
Hosoya O; Department of Medical Neurobiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama 700-8558, Japan.
Saito A; Department of Medical Neurobiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama 700-8558, Japan.
Nakazono K; StaGen Co., Ltd., Tokyo 111-0051, Japan.

Int J Mol Sci ; 23(15)2022 Aug 03.

Article em En | MEDLINE | ID: mdl-35955756

Assuntos

Biologia Computacional; Músculos Oculomotores; Humanos; Japão; Nucleotídeos; Paralisia; Sequenciamento Completo do Genoma

Palavras-chave

SNVs/InDels; SSTR5-AS1; bioinformatics; esotropia; exotropia; idiopathic superior oblique muscle palsy; linkage analysis; muscle hypoplasia (aplasia); single nucleotide variations and short insertions/deletions; strabismus; whole genome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Biologia Computacional / Músculos Oculomotores Limite: Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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