Associated Papers
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1
A novel ATP7B gene mutation in a liver failure patient with normal ceruloplasmin and low serum alkaline phosphatase.
Chen L et al.
Gene, 2014
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.
Weiss KH et al.
Journal of Inherited Metabolic Disease, 2010
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
Lepori MB et al.
Genetic Testing, 2007
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