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. 2018 Sep 3;10(3):26. doi: 10.1038/s41368-018-0027-9

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© The Author(s) 2018

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Fig. 4 — Interval mapping and mutational analysis of AMBN. a Chromosomal location of the AMBN gene and the distribution of seven short tandem repeat (STR) markers. b Sanger sequencing result of the WT and the mutant. All the patients in this family carry a heterozygous mutation of AMBN (c.1069C > T). b This abnormal variation changes amino acid 357 of AMBN from a hydrophobic P to a hydrophilic S.