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Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism

Wieland, Kerstin, Millar, David Stuart, Grundy, Catherine B., Mibashan, Reuben S., Kakkar, Vijay V. and Cooper, David Neil 1991. Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism. Human Genetics 86 (3) , pp. 273-278. 10.1007/BF00202408

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Abstract

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 of exon sequences. The other deletion, of maternal origin, probably involves the entire factor X gene. Restriction fragments associated with the exon VII + VIII deletion were present in three siblings including the homozygous proband. These fragments were however absent from the somatic cells of the father, a finding consistent with germline mosaicism.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: Springer
ISSN: 0340-6717
Last Modified: 17 May 2019 22:00
URI: http://orca.cf.ac.uk/id/eprint/63396

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