Exon skipping in CYBB mRNA and skewed inactivation of X chromosome cause late-onset chronic granulomatous disease

SR Proteins: Binders, Regulators, and Connectors of RNA

(2017) Sunjoo Jeong   MOLECULES AND CELLS

Two X-Linked Chronic Granulomatous Disease Patients with Unusual NADPH Oxidase Properties

(2011) Baruch Wolach et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Hematologically important mutations: X-linked chronic granulomatous disease (third update)

(2010) Dirk Roos et al.   BLOOD CELLS MOLECULES AND DISEASES

SROOGLE: webserver for integrative, user-friendly visualization of splicing signals

(2009) S. Schwartz et al.   NUCLEIC ACIDS RESEARCH

Chronic Granulomatous Disease: The European Experience

(2009) J. Merlijn van den Berg et al.   PLoS One

X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation

(2008) Eric M. Lewis et al.   CLINICAL IMMUNOLOGY

Adult Onset X-Linked Chronic Granulomatous Disease in a Woman Patient Caused by a de novo Mutation in Paternal-Origin CYBB Gene and Skewed Inactivation of Normal Maternal X Chromosome

(2008) Takahisa Gono et al.   INTERNAL MEDICINE

No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans

(2007) Véronique Bolduc et al.   JOURNAL OF CLINICAL INVESTIGATION