SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct.-论文-万方医学网

作者： Janet R,Chao ^[1] ; Parna,Chattaraj ^[2] ; Tina,Munjal ^[1] ; Keiji,Honda ^[1] ; Kelly A,King ^[1] ; Christopher K,Zalewski ^[1] ; Wade W,Chien ^[1] ; Carmen C,Brewer ^[3] ; Andrew J,Griffith ^[1]

作者单位： Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 35A Convent Drive, Room GF103, NIDCD/NIH, Bethesda, MD, USA. ^[1] Division of Otolaryngology, Department of Surgery, Yale School of Medicine, New Haven, CT, USA. ^[2] Neurotology Program, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA. ^[3] Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 35A Convent Drive, Room GF103, NIDCD/NIH, Bethesda, MD, USA. griffita@nidcd.nih.gov. ^[4]

主题词青少年(Adolescent);成年人(Adult);等位基因(Alleles);测听法(Audiometry);儿童(Child);儿童, 学龄前(Child, Preschool);染色体, 人, 7对(Chromosomes, Human, Pair 7);女(雌)性(Female);遗传关联研究(Genetic Association Studies);疾病遗传易感性(Genetic Predisposition to Disease);遗传变异(Genetic Variation);基因型(Genotype);甲状腺肿, 结节性(Goiter, Nodular);单倍型(Haplotypes);听力(Hearing);听觉丧失(Hearing Loss);听觉丧失, 感音神经性(Hearing Loss, Sensorineural);杂合子(Heterozygote);纯合子(Homozygote);人类(Humans);男(雄)性(Male);突变(Mutation);表型(Phenotype);前瞻性研究(Prospective Studies);RNA剪接位点(RNA Splice Sites);甲状腺(Thyroid Gland);前庭水管(Vestibular Aqueduct);青年人(Young Adult)

DOI 10.1186/s12881-019-0853-4

PMID 31266487

发布时间 2020-03-28

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SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct.

BMC medical genetics

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BMC medical genetics

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SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct.

BMC medical genetics

相似文献

BMC medical genetics

相关期刊

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