Possibility of somatic mosaicism of ELA2 mutation overlooked in an asymptomatic father transmitting severe congenital neutropenia to two offspring [3] (multiple letters)

British Journal of Haematology

Volumn 118, Issue 3, 2002, Pages 923-

  Benson, Kathleen F ^a   Horwitz, Marshall ^a   Germeshausen, Manuela ^b   Ballmaier, Matthias ^b   Welte, Karl ^b  

^a UNIVERSITY OF WASHINGTON   (United States)

^b HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

Congenital neutropenia; ELA2 mutation; Somatic mosaicism

Indexed keywords

LEUKOCYTE ELASTASE;

ACHONDROPLASIA; ALLELE; DUCHENNE MUSCULAR DYSTROPHY; ELA2 GENE; ENZYME ACTIVITY; GENE; GENE MUTATION; HEMOPHILIA; HUMAN; HUNTER SYNDROME; LETTER; LINKAGE ANALYSIS; LYMPHOCYTE; MOSAICISM; NEUROFIBROMATOSIS; NEUTROPENIA; NEUTROPHIL; OSTEOGENESIS IMPERFECTA; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETINOBLASTOMA; SOMATIC MUTATION; TUBEROUS SCLEROSIS;

EID: 0036041877     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.0007-1048.2002.03648.x     Document Type: Letter

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