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A Controlled SCID: Bringing Reticular Dysgenesis to a Halt
Author(s) -
Kang MH
Publication year - 2009
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2009.01199_3.x
Subject(s) - adenylate kinase , reticular connective tissue , dysgenesis , genetics , biology , medicine , anatomy , receptor
Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2 Pannicke et al. (2009) Nature Genetics 41: 101–105 Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness Lagresle‐Peyrou et al. (2009) Nature Genetics 41: 106‐111