Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB

Blood

Volumn 105, Issue 1, 2005, Pages 61-66

  Wolach, Baruch ^a   Scharf, Yitshak ^b   Gavrieli, Ronit ^b   De Boer, Martin ^b   Roos, Dirk ^b  

^a MEIR MEDICAL CENTER   (Israel)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; GLYCOPROTEIN GP 91; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; TYROSINE; VALINE;

AGED; ALLELE; ARTICLE; BONE MARROW; CASE REPORT; CHEEK MUCOSA; CHRONIC GRANULOMATOUS DISEASE; CLINICAL FEATURE; CONTROLLED STUDY; CYBB GENE; ENZYME ACTIVITY; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HUMAN CELL; LEUKOCYTE; MEMORY CELL; METHYLATION; PRIORITY JOURNAL; RARE DISEASE; X CHROMOSOME LINKED DISORDER;

EID: 11144232335     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2004-02-0675     Document Type: Article

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