Hb Aztec orα762Met→Thrβ2Detection of a Silent Mutant by High Performance Liquid Chromatography
作者:
SheltonJoan B.,
SheltonJ. Roger,
SchroederW. A.,
PowarsDarleen R.,
期刊:
Hemoglobin
(Taylor Available online 1985)
卷期:
Volume 9,
issue 4
页码: 325-332
ISSN:0363-0269
年代: 1985
DOI:10.3109/03630268508997008
出版商: Taylor&Francis
数据来源: Taylor
摘要:
High performance liquid chromatography has detected 14 abnormal hematological states in 600 randomly selected samples of blood. Two of these are silent mutations which are not apparent from chromatographic or electrophoretic examination. One of these has the substitutionα76 (EF5) Met→Thr and has been named Hb Aztec. The variant was first detected in a 9-day-old baby girl who had inherited it from her mother. This abnormal hemoglobin has no obviously deleterious effect or hematological status or health.
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