Author:
Landowski Michael,O’Donohue Marie-Françoise,Buros Christopher,Ghazvinian Roxanne,Montel-Lehry Nathalie,Vlachos Adrianna,Sieff Colin A.,Newburger Peter E.,Niewiadomska Edyta,Matysiak Michal,Glader Bertil,Atsidaftos Eva,Lipton Jeffrey M.,Beggs Alan H.,Gleizes Pierre-Emmanuel,Gazda Hanna T.
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference28 articles.
1. Ball SE, McGuckin CP, Jenkins G, Gordon-Smith EC (1996) Diamond–Blackfan anaemia in the UK: analysis of 80 cases from a 20-year birth cohort. Br J Haematol 94:645–653
2. Beggs AH, Koenig M, Boyce FM, Kunkel LM (1990) Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 86:45–48
3. Campagnoli MF, Garelli E, Quarello P, Carando A, Sv SV, Nobili B, Dl DL, Pecile V, Zecca M, Dufour C, Ramenghi U, Dianzan I (2004) Molecular basis of Diamond–Blackfan anemia: new findings from the Italian registry and a review of the literature. Haematologica 89:480–489
4. Ceulemans S, van der Ven K, Del-Favero J (2012) Targeted screening and validation of copy number variations. Methods Mol Biol 838:311–328
5. Choesmel V, Bacqueville D, Rouquette J, Noaillac-Depeyre J, Fribourg S, Cretien A, Leblanc T, Tchernia G, Da Costa L, Gleizes PE (2007) Impaired ribosome biogenesis in Diamond–Blackfan anemia. Blood 109:1275–1283
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