Skewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patients

Background: Hemophilia A (HA) and B (HB) are X-linked recessive disorders that mainly affect males born from a mother carrier. Females are rarely affected but a number of mechanisms have been suggested in symptomatic females, such as skewed X-chromosome inactivation (XCI), chromosomal rearrangements...

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Detalles Bibliográficos
Autores principales: Shen, Ming-Ching, Chang, Shun-Ping, Lee, Dong-Jay, Lin, Wen-Hsiang, Chen, Ming, Ma, Gwo-Chin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600608/
https://www.ncbi.nlm.nih.gov/pubmed/36291957
http://dx.doi.org/10.3390/diagnostics12102267

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600608/
https://www.ncbi.nlm.nih.gov/pubmed/36291957
http://dx.doi.org/10.3390/diagnostics12102267

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