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Oxford University Press

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Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation‐negative patient with clinically diagnosed Alagille syndrome

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John Wiley & Sons Inc

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Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation

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Human Molecular Genetics, Vol. 8, Iss. 9, 1999-09 ,pp. : 1665-1671

Oxford University Press

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A Novel Loss-of-Function Mutation in HOXB1 Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family

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A Novel Q562X Mutation Identified in the hMLH1 Gene in a Slovenian Patient with Hereditary Nonpolyposis Colorectal Cancer

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