G6PC3 mutations cause non-syndromic severe congenital neutropenia

Molecular Genetics and Metabolism

Volumn 108, Issue 2, 2013, Pages 138-141

  Banka, Siddharth ^a   Wynn, Robert ^b   Byers, Helen ^a   Arkwright, Peter D ^a   Newman, William G ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

G6PC3; Glucose 6 phosphatase; Neutropenia

Indexed keywords

GLUCOSE 6 PHOSPHATASE;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CONSANGUINITY; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SEVERE CONGENITAL NEUTROPENIA;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; EXONS; FEMALE; GENOTYPE; GLUCOSE-6-PHOSPHATASE; HUMANS; MUTATION; NEUTROPENIA; SEQUENCE ALIGNMENT;

EID: 84872981709     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.12.001     Document Type: Article

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