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Volumn 7, Issue 4, 1996, Pages 374-
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Identification of a donor splice site mutation leading to loss of p22-phox exon 5 in autosomal chronic granulomatous disease.
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Author keywords
[No Author keywords available]
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Indexed keywords
CARRIER PROTEIN;
CYBA PROTEIN, HUMAN;
PHOSPHOPROTEIN;
PRIMER DNA;
REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE DEHYDROGENASE;
REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE;
ARTICLE;
CASE REPORT;
CHILD;
CHRONIC GRANULOMATOUS DISEASE;
EXON;
FEMALE;
GENE DELETION;
GENETICS;
HUMAN;
MOLECULAR GENETICS;
MUTATION;
NUCLEOTIDE SEQUENCE;
RNA SPLICING;
BASE SEQUENCE;
CHILD;
DNA PRIMERS;
EXONS;
FEMALE;
GENE DELETION;
GRANULOMATOUS DISEASE, CHRONIC;
HUMANS;
MEMBRANE TRANSPORT PROTEINS;
MOLECULAR SEQUENCE DATA;
MUTATION;
NADPH DEHYDROGENASE;
NADPH OXIDASE;
PHOSPHOPROTEINS;
RNA SPLICING;
MLCS;
MLOWN;
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EID: 0029693145
PISSN: 10597794
EISSN: None
Source Type: Journal
DOI: 10.1002/(sici)1098-1004(1996)7:4<374::aid-humu16>3.3.co;2-q Document Type: Article |
Times cited : (10)
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References (0)
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