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Artemis, A Novel Dna Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated In Human Severe Combined Immune Deficiency
(Cell Press, 2001)
The V(D)J recombination process insures the somatic diversification of immunoglobulin and antigen T cell receptor encoding genes. This reaction is initiated by a DNA double-strand break (dsb), which is resolved by the ...
The Mutational Spectrum Of Human Malignant Autosomal Recessive Osteopetrosis
(Oxford Univ Press, 2001)
Human malignant infantile osteopetrosis (arOP; MIM 259700) is a genetically heterogenous autosomal recessive disorder of bone metabolism, which, if untreated, has a fatal outcome. Our group, as well as others, have recently ...
Activation-Induced Cytidine Deaminase (AID) Deficiency Causes The Autosomal Recessive Form Of The Hyper-Igm Syndrome (HIGM2)
(Cell Press, 2000)
The activation-induced cytidine deaminase (AID) gene, specifically expressed in germinal center B cells in mice, is a member of the cytidine deaminase family. We herein report mutations in the human counterpart of AID in ...