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Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression.

Journal of medical genetics - 19 Jul 2024

Ziegler Betiana Michelle, Abelleyro Miguel Martin, Marchione Vanina Daniela, Lazarte Nicolás, Ledesma Martín Manuel, Elhelou Ludmila, Neme Daniela, Rossetti Liliana Carmen, Medina-Acosta Enrique, Giliberto Florencia, De Brasi Carlos, Radic Claudia Pamela

Abstract excerpt

BACKGROUND: Exploring the expression of X linked disorders like haemophilia A (HA) in females involves understanding the balance achieved through X chromosome inactivation (XCI). Skewed XCI (SXCI) may be involved in symptomatic HA carriers. We aimed to develop an approach for dissecting the specific cause of SXCI and verify its value in HA. METHODS: A family involving three females (two symptomatic with...

Topics

Humans
X Chromosome Inactivation
Female
Hemophilia A
Male
Pedigree
Algorithms
Exome Sequencing
Factor VIII
Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genomics

DNA Copy Number Variations

Mutation

Adult

Source

Identifiers

PMID: 38719348
DOI: 10.1136/jmg-2024-109902

Genes

F8
AR
RP2
VMA21

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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