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

Sanford, Erica; Watkins, Kelly; Nahas, Shareef; Gottschalk, Michael; Coufal, Nicole G; Farnaes, Lauge; Dimmock, David; Kingsmore, Stephen F

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

Sanford, Erica; Watkins, Kelly; Nahas, Shareef; Gottschalk, Michael; Coufal, Nicole G; Farnaes, Lauge; Dimmock, David; Kingsmore, Stephen F.

Afiliação

Sanford E; Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, California 92123, USA.
Watkins K; Division of Pediatric Intensive Care Medicine, Department of Pediatrics, University of California, San Diego, San Diego, California 92161, USA.
Nahas S; Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, California 92123, USA.
Gottschalk M; Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, California 92123, USA.
Coufal NG; Division of Pediatric Endocrinology, Department of Pediatrics, University of California, San Diego, San Diego, California 92161, USA.
Farnaes L; Division of Pediatric Intensive Care Medicine, Department of Pediatrics, University of California, San Diego, San Diego, California 92161, USA.
Dimmock D; Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, California 92123, USA.
Kingsmore SF; Rady Children's Institute of Genomic Medicine, University of California, San Diego, San Diego, California 92123, USA.

Cold Spring Harb Mol Case Stud ; 4(3)2018 06.

Article em En | MEDLINE | ID: mdl-29437776

Assuntos

Mutação; Fenótipo; Poliendocrinopatias Autoimunes/diagnóstico; Poliendocrinopatias Autoimunes/genética; Fatores de Transcrição/genética; Sequenciamento Completo do Genoma; Alelos; Pré-Escolar; Mapeamento Cromossômico; Feminino; Estudo de Associação Genômica Ampla; Genótipo; Humanos; Proteína AIRE

Palavras-chave

autoimmune hypoparathyroidism; hyperphosphatemia; hypocalcemic seizures

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Fatores de Transcrição / Poliendocrinopatias Autoimunes / Sequenciamento Completo do Genoma / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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