Cyclic neutropenia and severe congenital neutropenia in patients with a shared ELANE mutation and paternal haplotype: Evidence for phenotype determination by modifying genes

Pediatric Blood and Cancer

Volumn 55, Issue 2, 2010, Pages 314-317

  Newburger, Peter E ^a   Pindyck, Talia N ^a,d   Zhu, Zhiqing ^a   Bolyard, Audrey Anna ^b   Aprikyan, Andrew A G ^b   Dale, David C ^b   Smith, Gary D ^c   Boxer, Laurence A ^c  

^a UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

Cyclic neutropenia; ELANE mutation; Severe congenital neutropenia; Sperm donor

Indexed keywords

DNA;

ALLELE; ARTICLE; CHEEK MUCOSA; CONGENITAL DISORDER; DNA SEQUENCE; ELANE GENE; GENE; GENE MUTATION; HAPLOTYPE; HUMAN; LYMPHOCYTE; MALE; NEUTROPENIA; NEUTROPHIL; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEVERE CONGENITAL NEUTROPENIA; SEX CHROMOSOME MOSAICISM; SPERM; SPERM DONOR; SPERMATOZOON;

BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; FATHERS; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INFANT; INHERITANCE PATTERNS; LEUKOCYTE ELASTASE; MALE; MUTATION; NEUTROPENIA; PEDIGREE; PHENOTYPE; SPERMATOZOA;

EID: 77955122507     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.22537     Document Type: Article

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