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A new polymorphism (c28C>A) of EXT2 gene identified in a Taiwan Chinese family

โœ Scribed by Yi-Ru Shi; Jer-Yuarn Wu; Fuu-Jen Tsai; Cheng-Chun Lee; Chang-Hai Tsai

Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
15 KB
Volume
17
Category
Article
ISSN
1059-7794

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โœ Shiping Cai; David H. K. Chui; Judy Ng; Annette O. Poon; Melvin H. Freedman; Dr. ๐Ÿ“‚ Article ๐Ÿ“… 1991 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 314 KB

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.