Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease

Blood

Volumn 98, Issue 9, 2001, Pages 2645-2650

  Ancliff, Phil J ^a   Gale, Rosemary E ^a   Liesner, Ri ^a   Hann, Ian M ^a   Linch, David C ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 19P; CLINICAL ARTICLE; EXON; FAMILIAL DISEASE; GENE MUTATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; HETEROZYGOSITY; HUMAN; INTRON; NEUTROPENIA; NUCLEIC ACID BASE SUBSTITUTION; PEDIGREE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL;

EID: 0035525791     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.V98.9.2645     Document Type: Article

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