Neutrophil-specific granule deficiency: Homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein-ε

Blood

Volumn 97, Issue 9, 2001, Pages 2561-2567

  Gombart, Adrian F ^a,b   Shiohara, Masaaki ^a,b   Kwok, Scott H ^a,b   Agematsu, Kazunaga ^a,b   Komiyama, Atsushi ^a,b   Phillip Koeffler, H ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CCAAT ENHANCER BINDING PROTEIN; COMPLEMENTARY DNA; DNA; MESSENGER RNA; NUCLEOTIDE; PROTEIN; TRANSCRIPTION FACTOR;

ADULT; ALLELE; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; FEMALE; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; INHERITANCE; MONKEY; MOUSE; NEUTROPHIL; NEUTROPHIL SPECIFIC GRANULE DEFICIENCY; NONHUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0035353169     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.V97.9.2561     Document Type: Article

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