A case with α-thalassemia caused by novel start codon variant in conjunct with right deletion variant of α2-globin gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 12-14, 2021.
Artículo
en Chino
| WPRIM
| ID: wpr-879512
ABSTRACT
OBJECTIVE@#The explore the genetic basis for a patient with microcytic hypochromic anemia and iron deficiency anemia.@*METHODS@#Common deletions and variants of the globin genes were detected by Gap-PCR and next generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing.@*RESULTS@#Gap-PCR and NGS showed that the proband has carried a αα/-α @*CONCLUSION@#Patients with α HBA2 c.2T>A(p.Met1Lys) α/-α
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Diagnóstico Prenatal
/
Variación Genética
/
Talasemia alfa
/
Codón Iniciador
/
Globinas alfa
/
Asesoramiento Genético
/
Genotipo
/
Anemia Hipocrómica
/
Mutación
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Masculino
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Artículo
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