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Gross Deletions Involving Ighm, Btk, Or Artemis: A Model For Genomic Lesions Mediated By Transposable Elements
(Cell Press, 2008)
Most genetic disruptions underlying human disease are microlesions, whereas gross lesions are rare with gross deletions being most frequently found (6%). Similar observations have been made in primary immunodeficiency ...
Human Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia Due To Tnfrsf11A (Rank) Mutations
(Cell Press, 2008)
Autosomal-Recessive Osteopetrosis (ARO) comprises a heterogeneous group of bone diseases for which mutations in five genes are known as causative. Most ARO are classified as osteoclast-rich, but recently a subset of ...
A Dna-Pkcs Mutation in A Radiosensitive T-B- Scid Patient Inhibits Artemis Activation And Nonhomologous End-Joining
(Amer Soc Clinical Investigation Inc, 2009)
Radiosensitive T-B- severe combined immunodeficiency (RS-SCID) is caused by defects in the nonhomologous end-joining (NHEJ) DNA repair pathway, which results in failure of functional V(D)J recombination. Here we have ...