Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing: First South Asian study.

Aggarwal, Anu; Jamwal, Manu; Sharma, Prashant; Sachdeva, Man Updesh Singh; Bansal, Deepak; Malhotra, Pankaj; Das, Reena

Aggarwal, Anu; Jamwal, Manu; Sharma, Prashant; Sachdeva, Man Updesh Singh; Bansal, Deepak; Malhotra, Pankaj; Das, Reena.

Afiliação

Aggarwal A; Department of Haematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Jamwal M; Department of Haematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Sharma P; Department of Haematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Sachdeva MUS; Department of Haematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Bansal D; Haematology-Oncology Unit, Department of Paediatrics, Advanced Paediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Malhotra P; Department of Internal Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Das R; Department of Haematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Br J Haematol ; 188(5): 784-795, 2020 03.

Article em En | MEDLINE | ID: mdl-31602632

Assuntos

Anquirinas/genética; Povo Asiático/genética; Família; Sequenciamento de Nucleotídeos em Larga Escala; Mutação; Espectrina/genética; Esferocitose Hereditária/genética; Adolescente; Adulto; Criança; Feminino; Humanos; Masculino; Estudos Prospectivos; África do Sul

Palavras-chave

ankyrin; hereditary spherocytosis; α-spectrin and Band-3; ß-spectrin

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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Esferocitose Hereditária / Família / Espectrina / Anquirinas / Povo Asiático / Sequenciamento de Nucleotídeos em Larga Escala / Mutação Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male País/Região como assunto: Africa Idioma: En Revista: Br J Haematol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Índia

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