Author:
Marshall Jan D,Maffei Pietro,Beck Sebastian,Barrett Timothy G,Paisey Richard,Naggert Jürgen K
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference12 articles.
1. Marshall JD, Hinman EG, Collin GB et al: Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. Hum Mutation 2007; 28: 1114–1123.
2. Marshall JD, Maffei P, Collin GB, Naggert JK : Alström syndrome: genetics and clinical overview. Curr Genomics 2011; 12: 225–235.
3. Pereiro I, Hoskins BE, Marshall JD et al: Arrayed Primer Extension (APEX) technology simplifies mutation detection in Bardet Biedl and Alström Syndrome. Eur J Hum Genet 2011; 19: 485–488.
4. Piñeiro-Gallego T, Cortón M, Ayuso C, Baiget M, Valverde D : Molecular approach in the study of Alström syndrome: analysis of ten Spanish families. Mol Vis 2012; 18: 1794–1802.
5. Redin C, Le Gras S, Mhamdi O et al: Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes. J Med Genet 2012; 49: 502–512.
Cited by
28 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献