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Academic Journal

Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence.

  • Authors : Sakamoto M; Department of Medical Genetics, Biomedical Research Center, Osaka University Medical School, Japan. ; Ono J

Subjects: Brain* ; Microtubule-Associated Proteins*; Brain Diseases/Brain Diseases/Brain Diseases/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2000; Vol. 45 (3), pp. 167-70.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print Cited Medium: Print ISSN: 1434-5161 (Print)

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Academic Journal

Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population.

  • Authors : Takeuchi K; Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Tsu, Japan.; Xu Y

Subjects: DNA Copy Number Variations*; Ciliary Motility Disorders/Ciliary Motility Disorders/Ciliary Motility Disorders/*genetics ; Microtubule-Associated Proteins/Microtubule-Associated Proteins/Microtubule-Associated Proteins/*genetics

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Mar; Vol. 8 (3), pp. e1137. Date of Electronic Publication: 2020 Jan 20.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients.

  • Authors : Morimoto K; Fukujuji Hospital, Japan Anti-Tuberculosis Association, Tokyo, Japan.; The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Tokyo, Japan.

Subjects: Asian/Asian/Asian/*genetics ; Bronchiolitis/Bronchiolitis/Bronchiolitis/*genetics ; Ciliary Motility Disorders/Ciliary Motility Disorders/Ciliary Motility Disorders/*genetics Diffuse panbronchiolitis

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Aug; Vol. 7 (8), pp. e838. Date of Electronic Publication: 2019 Jul 04.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-4 ل  4 نتائج ل ""Microtubule-Associated Proteins""