Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family.

Dongerdiye, Rashmi; Sampagar, Abhilasha; Devendra, Rati; Warang, Prashant; Kedar, Prabhakar

Dongerdiye, Rashmi; Sampagar, Abhilasha; Devendra, Rati; Warang, Prashant; Kedar, Prabhakar.

Afiliación

Dongerdiye R; Department of Haematogenetics, ICMR-National Institute of Immunohaematology, Indian Council of Medical Research, 13th Floor, New Multistorey Building, KEM Hospital Campus, Parel, Mumbai, 400012, India.
Sampagar A; KLES Dr. Prabhakar Kore Hospital & Medical Research Centre, Belgavi, 590010, India.
Devendra R; Department of Haematogenetics, ICMR-National Institute of Immunohaematology, Indian Council of Medical Research, 13th Floor, New Multistorey Building, KEM Hospital Campus, Parel, Mumbai, 400012, India.
Warang P; Department of Haematogenetics, ICMR-National Institute of Immunohaematology, Indian Council of Medical Research, 13th Floor, New Multistorey Building, KEM Hospital Campus, Parel, Mumbai, 400012, India.
Kedar P; Department of Haematogenetics, ICMR-National Institute of Immunohaematology, Indian Council of Medical Research, 13th Floor, New Multistorey Building, KEM Hospital Campus, Parel, Mumbai, 400012, India. kedarps2002@yahoo.com.

BMC Med Genomics ; 14(1): 191, 2021 07 28.

Article en En | MEDLINE | ID: mdl-34321014

Asunto(s)

Anemia Hemolítica Congénita no Esferocítica

Palabras clave

Adenylate kinase deficiency; Congenital hemolytic anemia; Enzymopathies; Prenatal diagnosis

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anemia Hemolítica Congénita no Esferocítica Tipo de estudio: Guideline Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: India

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