A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family

Journal of Clinical Immunology

Volumn 33, Issue 8, 2013, Pages 1403-1406

  Alangari, Abdullah A ^a   Alsultan, Abdulrahman ^a   Osman, Mohamed Elfaki ^a   Anazi, Shamsa ^b   Alkuraya, Fowzan S ^b,c  

^a KING SAUD UNIVERSITY   (Saudi Arabia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

autozygosity mapping; congenital heart disease; Cyclic neutropenia; G6PC3; severe congenital neutropenia; thrombocytopenia

Indexed keywords

ARTICLE; CHILD; CLINICAL ARTICLE; CONGENITAL HEART DISEASE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA SEQUENCE; FEMALE; GENE IDENTIFICATION; GENE MAPPING; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SELECTION; GLUCOSE 6 PHOSPHATASE CATALYTIC SUBUNIT 3 GENE; HOMOZYGOTE; HUMAN; MALE; MUTATIONAL ANALYSIS; MUTATOR GENE; NEUTROPENIA; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEVERE CONGENITAL NEUTROPENIA; THROMBOCYTOPENIA;

CHILD; GENES, RECESSIVE; GLUCOSE-6-PHOSPHATASE; HOMOZYGOTE; HUMANS; MALE; MUTATION; NEUTROPENIA; PEDIGREE; PHENOTYPE; SEVERITY OF ILLNESS INDEX;

EID: 84889028937     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-013-9945-7     Document Type: Article

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