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Rapidly fatal Q-fever pneumonia in a patient with chronic granulomatous disease

✍ Scribed by J. F. G. M. Meis; A. M. Horrevorts; J. M. D. Galama; C. R. M. Weemaes; S. J. Aerdts; P. J. Westenend

Publisher
Springer-Verlag
Year
1992
Tongue
English
Weight
813 KB
Volume
20
Category
Article
ISSN
0300-8126

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Xp21 DNA microdeletion in a patient with
Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype
✍ G. Saint-Basile; M. C. Bohler; A. Fischer; J. Cartron; J. L. Dufier; C. Griscell πŸ“‚ Article πŸ“… 1988 πŸ› Springer 🌐 English βš– 651 KB

The clinical, biochemical, and molecular analysis of a patient with chronic granulomatous disease (CGD), retinitis pigmentosa (RP), and McLeod phenotype and of his parents demonstrated the X-linked transmission of these three traits in this family and a deletion of the entire X-CGD gene of the patie