Johanson-Blizzard syndrome

doi:10.3748/wjg.v17.i37.4247

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Oct 7, 2011 (publication date) through Dec 22, 2024

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World Journal of Gastroenterology

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1007-9327

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Gastroenterol. Oct 7, 2011; 17(37): 4247-4250
Published online Oct 7, 2011. doi: 10.3748/wjg.v17.i37.4247

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Figure 2 Demonstration and characterization of the familial mutation. A: Comparison of electropherograms around the T > C transition at position c.2098; B: Nucleotide and amino acid sequence; C: Multiple protein alignement (http://www.ebi.ac.uk/Tools/msa/clustalw2) of vertebrate UBR1. Black shading indicates identical residues. wt: Wild-type; Hom: Homozygous; Het: heterozygous; Hs: Homo sapiens; Mm: Mus musculus; Cf: Canis familiaris; Bt: Bos taurus; Gg: Gallus gallus; Xt: Xenopus tropicalis; Dr: Danio rerio; UBR2: Human UBR2 protein.

Citation: Almashraki N, Abdulnabee MZ, Sukalo M, Alrajoudi A, Sharafadeen I, Zenker M. Johanson-Blizzard syndrome. World J Gastroenterol 2011; 17(37): 4247-4250
URL: https://www.wjgnet.com/1007-9327/full/v17/i37/4247.htm
DOI: https://dx.doi.org/10.3748/wjg.v17.i37.4247