A Novel ANK1 Mutation in a Neonatal Hereditary Spherocytosis Case: Diagnostic Challenges and Familial Genetic Analysis.

Li, Jing; Guo, Haiyan; Zhu, Zaifu; Sun, Jingmin

Li, Jing; Guo, Haiyan; Zhu, Zaifu; Sun, Jingmin.

Afiliación

Li J; Pediatric Intensive Care Unit, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Guo H; Pediatric Intensive Care Unit, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Zhu Z; Pediatric Intensive Care Unit, The First Affiliated Hospital of Anhui Medical University, Hefei, China.
Sun J; Pediatric Intensive Care Unit, The First Affiliated Hospital of Anhui Medical University, Hefei, China.

Acta Haematol ; 145(6): 575-581, 2022.

Article en En | MEDLINE | ID: mdl-35817016

Asunto(s)

Ancirinas; Esferocitosis Hereditaria; Lactante; Recién Nacido; Humanos; Ancirinas/genética; Esferocitosis Hereditaria/diagnóstico; Esferocitosis Hereditaria/genética; Mutación; Pueblo Asiatico; Pruebas Genéticas

Palabras clave

ANK1; Clinical genetics; DNA sequencing; Hereditary spherocytosis

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Esferocitosis Hereditaria / Ancirinas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Infant / Newborn Idioma: En Revista: Acta Haematol Año: 2022 Tipo del documento: Article País de afiliación: China

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