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Volume 44, Issue 1, Pages 240-242 (January 2006)
A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2 Ching-Wan Lam, Ka-Ming Cheung, Man-Shan Tsui, Matthew Shu-Ching Yan, Ching-Yin Lee, Sui-Fan Tong Journal of Hepatology Volume 44, Issue 1, Pages (January 2006) DOI: /j.jhep Copyright © 2005 European Association for the Study of the Liver Terms and Conditions
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Fig. 1 Mutational analysis. (Top) The missense mutation 1493 T>C or I498T in the patient shown in the sense direction. (Middle) The SNP 1605C>T or A535A in the patient is shown in the sense direction. (Bottom) The deletion of an adenine at the nucleotide position 2098 in the patient. The pattern is an overlap of sense strands of the wild type sequence (5′-CAACGCTCCAAGTCTCAGCTTTC-3′) and the mutant sequence (5′-CAACGCTCCAGTCTCAGCTTTC-3′). Heterozygous sites are denoted by the letter N. [This figure appears in colour on the web.] Journal of Hepatology , DOI: ( /j.jhep ) Copyright © 2005 European Association for the Study of the Liver Terms and Conditions
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