Identification of two novel beta zero-thalassemia mutations in a Filipino family: frameshift codon 67 (-TG) and a beta-globin gene deletion.

doi:10.1002/humu.1380020509

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Article

Identification of two novel beta zero-thalassemia mutations in a Filipino family: frameshift codon 67 (-TG) and a beta-globin gene deletion.

Human mutation - 1 Jan 1993

Eng B, Chui D H, Saunderson J, Olivieri N F, Waye J S

Abstract excerpt

The frequency of beta-thalassemia alleles among Filipinos is estimated to be 0.02, although little is known about the actual mutations represented in this population. Here, we describe a Filipino family in which a child has severe beta-thalassemia major. Molecular studies of the family revealed t...

Topics

Alleles
Base Sequence
Codon
Female
Frameshift Mutation
Gene Deletion
Globins
Humans
Infant
Male
Molecular Sequence Data
Philippines
beta-Thalassemia

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