Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1

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Veröffentlicht in:	Journal of medical genetics 2001-06, Vol.38 (6), p.e19-e19
Hauptverfasser:	Hiel, J A P, Weemaes, C M R, van Engelen, B G M, Smeets, D, Ligtenberg, M, van der Burgt, I, van den Heuvel, L P W J, Cerosaletti, K M, Gabreëls, F J M, Concannon, P
Format:	Artikel
Sprache:	eng
Schlagworte:	Ataxia Cell cycle Chromosome Aberrations Chromosomes Craniofacial Abnormalities - genetics Craniofacial Abnormalities - metabolism Deafness - genetics Deafness - metabolism DNA repair Electronic Letter Facies Genes Humans Immune system Immunoglobulins Immunologic Deficiency Syndromes - genetics Immunologic Deficiency Syndromes - metabolism Infant, Newborn Male Microcephaly Mutation Nuclear Proteins - genetics Nuclear Proteins - metabolism Patients Proteins Radiation Tolerance Syndrome X-Rays
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