Molecular genetic studies of two families with X-linked chronic granulomatous disease: Mutation analysis and definitive determination of carrier status in patients' sisters
Author:
Publisher
Wiley
Subject
Hematology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0609.1994.tb01293.x/fullpdf
Reference20 articles.
1. Cloning the gene for an inherited human disorder - chronic granulomatous disease - on the basis of its chromosomal location;Royer-Pokora;Nature,1986
2. A newly defined X-linked trait in man with demonstration of the Lyon effect in carrier females;Windhorst;Lancet,1967
3. Genetic heterogeneity in patients with X-linked recessive chronic granulomatous disease;Ariga;Pediatr Res,1992
4. Point mutations in the β-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease;Bolsher;Blood,1991
5. Splice site mutations are a common cause of X-linked chronic granulomatous disease;Bore;Blood,1992
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1. Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease;Frontiers in Immunology;2022-01-24
2. Identification of Cytochrome b‐245, beta‐chain gene mutations, and clinical presentations in Iranian patients with X‐linked chronic granulomatous disease;Journal of Clinical Laboratory Analysis;2020-10-23
3. Hematologically important mutations: X-linked chronic granulomatous disease (third update);Blood Cells, Molecules, and Diseases;2010-10
4. Cellular and Genetic Basis of Primary Immune Deficiencies;Pediatric Clinics of North America;2006-08
5. Hematologically Important Mutations: X-Linked Chronic Granulomatous Disease (Second Update);Blood Cells, Molecules, and Diseases;2001-01
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