Clinical, cytogenetic and molecular characterization of a new case of Nijmegen breakage syndrome in Chile

Autor: Marcelain C, Katherine, Aracena A, Mariana, Be R, Cecilia, Navarrete S, Carmen Luz, Moreno H, Rosa, Santos A, Manuel, Pincheira V, Juana

Publikováno v: Revista médica de Chile, Volume: 132, Issue: 2, Pages: 211-218, Published: FEB 2004

The Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive disorder associated with microcephaly, immunodeficiency, chromosome instability and cancer proneness. The mutated gene that results in NBS codes for nibrin (Nbs1/p95), a DNA repair pr

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http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000200011&lng=en&tlng=en

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Détection d'homologies lointaines à faibles identités de séquences : Application aux protéines de la signalisation des dommages de l'ADN

Autor: Meyer, Vincent

Publikováno v: Sciences du Vivant [q-bio]. Université Paris-Diderot-Paris VII, 2007. Français
Sciences du Vivant [q-bio]. Université Paris-Diderot-Paris VII, 2007. Français. ⟨NNT : ⟩

The aim of my PhD thesis lay in the development of a new automatic approach for efficiently detecting remote homologues lost in the non significant output of PSI-BLAST program. My strategy is based on a two steps procedure : first, we take advantage

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6a47c5ed8ab8377bb9aebd7a6a6279b0
https://tel.archives-ouvertes.fr/tel-00361212