Molecular and Hematological Characterization of a Novel Translation Initiation Codon Mutation of the &#945;2-Globin Gene (ATG>ATC or HBA2: c.3G>C).

Lei, Ya-Li; Sui, Hong; Liu, Yu-Juan; Pan, Jun-Jun; Liu, Yan-Hui; Lou, Ji-Wu

Molecular and Hematological Characterization of a Novel Translation Initiation Codon Mutation of the α2-Globin Gene (ATG>ATC or HBA2: c.3G>C).

Lei, Ya-Li; Sui, Hong; Liu, Yu-Juan; Pan, Jun-Jun; Liu, Yan-Hui; Lou, Ji-Wu.

Afiliación

Lei YL; Clinical Laboratory Department, Dongguan Kuanghua Hospital, Dongguan, People's Republic of China.
Sui H; Clinical Laboratory Department, Dongguan Kuanghua Hospital, Dongguan, People's Republic of China.
Liu YJ; Prenatal Diagnosis Center, Dongguan Kuanghua Hospital, Dongguan, People's Republic of China.
Pan JJ; Clinical Laboratory Department, Dongguan Kuanghua Hospital, Dongguan, People's Republic of China.
Liu YH; Prenatal Diagnosis Center, Dongguan Maternal and Child Health Hospital, Dongguan, People's Republic of China.
Lou JW; Prenatal Diagnosis Center, Dongguan Maternal and Child Health Hospital, Dongguan, People's Republic of China.

Hemoglobin ; 43(4-5): 241-244, 2019.

Article en En | MEDLINE | ID: mdl-31690131

Asunto(s)

Codón Iniciador/genética; Mutación Puntual; Globinas alfa/genética; Talasemia alfa/genética; Pueblo Asiatico; Secuencia de Bases; Índices de Eritrocitos; Familia; Femenino; Hemoglobina A2/genética; Hemoglobinas Anormales/genética; Humanos; Masculino; Fenotipo

Palabras clave

initiation codon; novel mutation; reverse transcription-multiplex ligation-dependent probe amplification (RT-MLPA); α-Thalassemia (α-thal)

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mutación Puntual / Talasemia alfa / Codón Iniciador / Globinas alfa Límite: Female / Humans / Male Idioma: En Revista: Hemoglobin Año: 2019 Tipo del documento: Article

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