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Molecular analysis of the genotype-phenotype relationship in factor X deficiency

✍ Scribed by D.S. Millar; L. Elliston; P. Deex; M. Krawczak; A.I. Wacey; J. Reynaud; H.K. Nieuwenhuis; P. Bolton-Maggs; P.M. Mannucci; J.C. Reverter; P. Cachia; K.J. Pasi; D.M. Layton; D.N. Cooper

Publisher
Springer
Year
2000
Tongue
English
Weight
77 KB
Volume
106
Category
Article
ISSN
0340-6717

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A case of homozygous factor X deficiency arising from the inheritance of two non-identical gene deletions from heterozygous parents is described. One, a partial gene deletion, was localized to exons VII and VIII by a combination of Southern blotting and polymerase chain reaction (PCR) amplification