Hb Extremadura [ß64(E8)GlyâSer;ß133(H11)ValâLeu]: a new molecular analysis.
Hemoglobin
; 35(4): 423-7, 2011.
Article
en En
| MEDLINE
| ID: mdl-21797709
ABSTRACT
Unstable hemoglobin (Hb) variants account for 9.5% of structural hemoglobinopathies. The majority of these unstable variants are the result of gene point mutations resulting in the substitution of a single amino acid by another. The presence of two mutations in the same allele is infrequent of the 781 variants of the ß-globin cluster described, only 32 are due to two point mutations (4.1%). Hb Extremadura is a structural variant that is included within the so-called unstable Hb anomalies. It was first described in 1989, employing the most up-to-date techniques available at that time, reversed phase high performance liquid chromatography (HPLC) to separate the abnormal chain (ß(X)) digesting it with trypsin and analysis of the fragments with an automatic analyzer.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Hemoglobinas Anormales
/
Mutación Missense
/
Globinas beta
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Hemoglobin
Año:
2011
Tipo del documento:
Article
País de afiliación:
España
Pais de publicación:
ENGLAND
/
ESCOCIA
/
GB
/
GREAT BRITAIN
/
INGLATERRA
/
REINO UNIDO
/
SCOTLAND
/
UK
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UNITED KINGDOM