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A new frameshift β°-thalassemia mutation (codons 27–28 +C) found in a Chinese family

✍ Scribed by Shiping Cai; David H. K. Chui; Judy Ng; Annette O. Poon; Melvin H. Freedman; Dr. Nancy F. Olivieri

Publisher: John Wiley and Sons
Year: 1991
Tongue: English
Weight: 314 KB
Volume: 37
Category: Article
ISSN: 0361-8609
DOI: 10.1002/ajh.2830370103

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✦ Synopsis

A new pthalassemia mutation, a frameshift mutation with an insertion of a single cytosine nucleotide in codon 27-28, is described. The propositus, who is compound heterozygous for this mutation and the IVSll-654 C+T p"-thalassemia mutation, has the phenotype of severe p-thalassemia major.

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