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

doi:10.1007/BF00202408

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Article

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

Human genetics - 1 Jan 1991

Wieland K, Millar D S, Grundy C B, Mibashan R S, Kakkar V V, Cooper D N

Abstract excerpt

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...

Topics

Base Sequence
Blotting, Southern
Chromosome Deletion
Exons
Factor X
Factor X Deficiency
Female
Genetic Carrier Screening
Humans
Male
Molecular Sequence Data

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mosaicism

Oligonucleotide Probes

Pedigree

Phenotype

Polymerase Chain Reaction

Restriction Mapping

Source

Open in PubMed

Identifiers

PMID: 1997381
DOI: 10.1007/BF00202408

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1997381-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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