(Q57149179)

1

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Christophe Oliveira

2

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Emmanuel Gonzales

3

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Pauline Gaignard

4

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Patrice Thérond

Molecular Genetics and Metabolism

5

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language of work or name

English

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publication date

November 2014

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published in

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volume

113

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issue

3

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page(s)

225-9

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cites work

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Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis

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Progressive familial intrahepatic cholestasis

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Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.

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ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history

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The regulation of splice-site selection, and its role in human disease

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Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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Predictive identification of exonic splicing enhancers in human genes

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ESEfinder: A web resource to identify exonic splicing enhancers

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Evaluation of in silico splice tools for decision-making in molecular diagnosis.

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Finding signals that regulate alternative splicing in the post-genomic era

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