Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease

Experimental Hematology

Volumn 27, Issue 3, 1999, Pages 505-511

  Roesler, Joachim ^a   Heyden, Stefan ^a   Burdelski, Martin ^b   Schäfer, Hansjorg ^b   Kreth, Hans Walter ^c   Lehmann, Romy ^a   Paul, Diana ^a   Marzahn, Jenny ^a   Gahr, Manfred ^a   Rösen Wolff, Angela ^a  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

Author keywords

Dihydrorhodamine 123; Missense mutation; Splice mutation; Symptoms; Variant chronic granulomatous disease

Indexed keywords

RHODAMINE 123;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CHRONIC GRANULOMATOUS DISEASE; CLINICAL ARTICLE; GENETIC LINKAGE; GERMANY; HUMAN; MALE; MISSENSE MUTATION; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; BINDING SITES; CHILD; CHILD, PRESCHOOL; CYTOCHROME B GROUP; DOSAGE COMPENSATION, GENETIC; FEMALE; GENE FREQUENCY; GENETIC HETEROGENEITY; GENOTYPE; GERMANY; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; HYDROGEN PEROXIDE; MACROMOLECULAR SUBSTANCES; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; NADP; NADPH OXIDASE; PHENOTYPE; POINT MUTATION; REACTIVE OXYGEN SPECIES; RNA SPLICING; RNA, MESSENGER; SUPEROXIDES; X CHROMOSOME;

EID: 0033051914     PISSN: 0301472X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0301-472X(98)00024-1     Document Type: Article

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