Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome

Clinical Genetics

Volumn 74, Issue 1, 2008, Pages 68-74

  Boztug, K ^a   Germeshausen, M ^a   Avedillo Diez I ^a   Gulacsy, V ^b   Diestelhorst, J ^a   Ballmaier, M ^a   Welte, K ^a   Marodi L ^b   Chernyshova, L I ^c   Klein, Christoph ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b UNIVERSITY OF DEBRECEN   (Hungary)

^c SHUPYK NATIONAL MEDICAL ACADEMY OF POSTGRADUATE EDUCATION   (Ukraine)

Author keywords

Aldrich syndrome; Gene therapy; Second site mutation; Somatic mosaicism; Somatic reversion; Wiskott

Indexed keywords

WISKOTT ALDRICH SYNDROME PROTEIN;

ARTICLE; B LYMPHOCYTE; CASE REPORT; CHROMOSOME MOSAICISM; DISEASE SEVERITY; EXON; FLOW CYTOMETRY; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NATURAL KILLER CELL; NONSENSE MUTATION; PATIENT REFERRAL; PRESCHOOL CHILD; PRIORITY JOURNAL; SIBLING; T LYMPHOCYTE; UKRAINE; WISKOTT ALDRICH SYNDROME; X CHROMOSOME LINKED DISORDER;

CHILD, PRESCHOOL; CODON, NONSENSE; HUMANS; MALE; MOSAICISM; SIBLINGS; WISKOTT-ALDRICH SYNDROME; WISKOTT-ALDRICH SYNDROME PROTEIN;

EID: 45149097639     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01019.x     Document Type: Article

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