Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells

Human Mutation

Volumn 33, Issue 3, 2012, Pages 541-550

  Roehl, Angelika C ^a   Mussotter, Tanja ^a   Cooper, David N ^b   Kluwe, Lan ^c   Wimmer, Katharina ^d   Högel, Josef ^a   Zetzmann, Marion ^a   Vogt, Julia ^a   Mautner, Victor Felix ^c   Kehrer Sawatzki, Hildegard ^a  

^a UNIVERSITY OF ULM   (Germany)

^b CARDIFF UNIVERSITY   (United Kingdom)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^d INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

Microdeletion; Mitotic NAHR; Mosaicism; Neurofibromatosis type 1; NF1

Indexed keywords

NEUROFIBROMIN;

ARTICLE; BLASTOCYST; BLOOD ANALYSIS; CELL MATURATION; CLINICAL ARTICLE; CONTROLLED STUDY; DEVELOPMENTAL STAGE; EPITHELIUM CELL; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HEMATOPOIETIC STEM CELL; HUMAN; HUMAN CELL; LEUKOCYTE; MALE; MOSAICISM; PRIORITY JOURNAL; SKIN FIBROBLAST; URINALYSIS; X CHROMOSOME INACTIVATION;

ADOLESCENT; ADULT; CELLS, CULTURED; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; FEMALE; HEMATOPOIETIC STEM CELLS; HUMANS; MIDDLE AGED; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; YOUNG ADULT;

EID: 84857047355     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22013     Document Type: Article

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