Rapid whole-genome sequencing identifies a novel <i>AIRE</i> variant associated with autoimmune polyendocrine syndrome type 1.

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作者： Erica,Sanford ^[1] ; Kelly,Watkins ^[2] ; Shareef,Nahas ^[1] ; Michael,Gottschalk ^[1] ; Nicole G,Coufal ^[3] ; Lauge,Farnaes ^[2] ; David,Dimmock ^[1] ; Stephen F,Kingsmore ^[1] ; RCIGM Investigators ^[1]

作者单位： Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, California 92123, USA. ^[1] Division of Pediatric Intensive Care Medicine, Department of Pediatrics, University of California, San Diego, San Diego, California 92161, USA. ^[2] Division of Pediatric Endocrinology, Department of Pediatrics, University of California, San Diego, San Diego, California 92161, USA. ^[3]

关键词 autoimmune hypoparathyroidism hyperphosphatemia hypocalcemic seizures

主题词等位基因(Alleles);儿童, 学龄前(Child, Preschool);染色体图(Chromosome Mapping);女(雌)性(Female);全基因组关联研究(Genome-Wide Association Study);基因型(Genotype);人类(Humans);突变(Mutation);表型(Phenotype);多内分泌腺疾病, 自身免疫性(Polyendocrinopathies, Autoimmune);转录因子(Transcription Factors)

DOI 10.1101/mcs.a002485

PMID 29437776

发布时间 2023-12-13

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Cold Spring Harbor molecular case studies

2018年4卷3期

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Rapid whole-genome sequencing identifies a novel <i>AIRE</i> variant associated with autoimmune polyendocrine syndrome type 1.

Cold Spring Harbor molecular case studies

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Cold Spring Harbor molecular case studies

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Rapid whole-genome sequencing identifies a novel <i>AIRE</i> variant associated with autoimmune polyendocrine syndrome type 1.

Cold Spring Harbor molecular case studies

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Cold Spring Harbor molecular case studies

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