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Gene deletion as the cause of α thalassaemia: Genetic lesion in homozygous α thalassaemia (hydrops fetalis)

✍ Scribed by TAYLOR, J. M.; DOZY, ANDREE; KAN, Y. W.; VARMUS, H. E.; LIE-INJO, L. E.; GANESAN, J.; TODD, D.


Book ID
109692935
Publisher
Nature Publishing Group
Year
1974
Tongue
English
Weight
238 KB
Volume
251
Category
Article
ISSN
0028-0836

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A new unstable -globin chain associated with -thalassemia phenotype has been found in a Spanish patient. Molecular analysis of the -globin gene complex using PCR and non-radioactive single-strand conformation analysis, allowed to identify a new mutation in the second exon of the 1 -globin gene. Dire