A new hemoglobin variant: Hb Henan [ß90(F6)Glu â Gln; HBB: c.271G < C].

Cai, Wu-Juan; Xie, Xing-Mei; Zhang, Yong-Ling; Li, Ru; Liao, Can; Li, Dong-Zhi

A new hemoglobin variant: Hb Henan [ß90(F6)Glu â Gln; HBB: c.271G < C].

Cai, Wu-Juan; Xie, Xing-Mei; Zhang, Yong-Ling; Li, Ru; Liao, Can; Li, Dong-Zhi.

Afiliación

Cai WJ; Prenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University , Guangzhou, Guangdong , People's Republic of China.

Hemoglobin ; 38(2): 127-9, 2014.

Article en En | MEDLINE | ID: mdl-24471793

ABSTRACT

ABSTRACT

We have identified a new ß chain hemoglobin (Hb) variant in a Chinese individual. Sequencing of the ß-globin gene revealed a mutation in exon 2 at nucleotide 271, which results in the replacement of a glutamic acid by glutamine at codon 90 [ß90(F6)Glu â Gln; GAG > CAG; HBB c.271G > C] that we have named Hb Henan.

Asunto(s)

Hemoglobinas Anormales/genética; Mutación Missense; Globinas beta/genética; Adulto; Secuencia de Bases; Análisis Mutacional de ADN; Femenino; Ácido Glutámico/genética; Glutamina/genética; Humanos; Masculino

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Hemoglobinas Anormales / Mutación Missense / Globinas beta Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: Hemoglobin Año: 2014 Tipo del documento: Article

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