Two New α-Thalassemia Frameshift Mutations Journal Articles

abstract

• alpha-Thalassemia (thal) is common all over the world. Most of the mutations encountered are of the deletional type. We now report two frameshift alpha-thal mutations: a novel alpha1-globin gene deletion at codon 62 (GTG -->-TG) found in an African American man, and a second report on an alpha2-globin gene deletion at codon 22 (GGC-->GG -) found in a Hispanic girl.

authors

• Luo, Hong-Yuang
• Adewoye, Adeboye H
• Pilichowska, Monika
• Li, Michael Yunlong
• Basran, Raveen K
• Steinberg, Martin H
• Chui, David Hing-kwei

status

• published 

publication date

• January 2007

has subject area

• 1103 Clinical Sciences (FoR)
• Amino Acid Sequence (MeSH)
• Base Sequence (MeSH)
• Black People (MeSH)
• Black or African American (MeSH)
• Child (MeSH)
• Female (MeSH)
• Frameshift Mutation (MeSH)
• Genetic Variation (MeSH)
• Hispanic or Latino (MeSH)
• Humans (MeSH)
• Immunology (Science Metrix)
• Male (MeSH)
• Middle Aged (MeSH)
• Sequence Deletion (MeSH)
• alpha-Thalassemia (MeSH)

published in

• Hemoglobin  Journal

keywords

• Amino Acid Sequence
• Base Sequence
• Black People
• Black or African American
• Child
• Female
• Frameshift Mutation
• Genetic Variation
• Hispanic or Latino
• Humans
• Male
• Middle Aged
• Sequence Deletion
• alpha-Thalassemia

Digital Object Identifier (DOI)

• 10.1080/03630260701285118

PubMed ID

• 17486494

start page

• 135

end page

• 139

volume

• 31

issue

• 2