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Your search keyword '"Mohammed Mowafy"' showing total 2 results
Start Over Author "Mohammed Mowafy" Topic anemia
2 results on '"Mohammed Mowafy"'

1. A New α Chain Hemoglobin Variant: Hb Al-Hammadi Riyadh [α75(EF4)Asp→Val (α2)]

Author

Michel Becchi, Nicole Couprie, Isabelle Zanella-Cléon, Nelly Burnichon, Philippe Lacan, Alain Francina, Mohammed Mowafy, and Martine Aubry

Subjects
Genetics, Anemia, education, Biochemistry (medical), Clinical Biochemistry, Hemoglobin variants, Hematology, Biology, medicine.disease, Molecular biology, Hb Al-Hammadi Riyadh, DNA sequencing, Exon, medicine, Hemoglobin, Transversion, Genetics (clinical), Alpha chain
Abstract

A new hemoglobin (Hb) variant in the heterozygous state, Hb Al-Hammadi Riyadh [codon 75 (GAC→GTC); α75(EF4)Asp→Val (α2)] corresponding to an A→T transversion on the second exon of the α2-globin gene, is described. The variant was characterized by DNA sequencing and mass spectrometry (MS). The variant was found during a routine Hb analysis for anemia in a 16-month-old boy who lived in Riyadh, Kingdom of Saudi Arabia.

Published
2006
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2. A new alpha chain hemoglobin variant: Hb Al-Hammadi Riyadh [alpha75(EF4)Asp--Val (alpha2)]

Author

Nelly, Burnichon, Philippe, Lacan, Michel, Becchi, Isabelle, Zanella-Cleon, Martine, Aubry, Mohammed, Mowafy, Nicole, Couprie, and Alain, Francina

Subjects
Male, Hemoglobins, Abnormal, Mutation, Missense, Infant, Anemia, Polymerase Chain Reaction, Globins, Amino Acid Substitution, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Humans, Point Mutation, Isoelectric Focusing, Codon, Chromatography, High Pressure Liquid
Abstract

A new hemoglobin (Hb) variant in the heterozygous state, Hb Al-Hammadi Riyadh [codon 75 (GAC--GTC); alpha75(EF4)Asp--Val (alpha2)] corresponding to an A--T transversion on the second exon of the alpha2-globin gene, is described. The variant was characterized by DNA sequencing and mass spectrometry (MS). The variant was found during a routine Hb analysis for anemia in a 16-month-old boy who lived in Riyadh, Kingdom of Saudi Arabia.

Published
2006

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