Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.

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Impacts of low coverage depths and post-mortem DNA damage on variant calling: a simulation study Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene.

P2860

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P2860

Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年學術文章

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Molecular and biochemical char ...... ogen storage disease type III.

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Molecular and biochemical char ...... ogen storage disease type III.

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Molecular and biochemical char ...... ogen storage disease type III.

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Molecular and biochemical char ...... ogen storage disease type III.

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Amel Ben Chehida

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Christiane Baussan

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Faten Ben Rhouma

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Fehmi Nasrallah

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Frédéric Parisot

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Hatem Azzouz

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Lilia Romdhane

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Marie-Françoise Ben Dridi

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Mariem Ben Khelifa

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Naziha Kaabachi

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P2860

Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle

Splicing in action: assessing disease causing sequence changes

Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.

Molecular characterization of glycogen storage disease type III.

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Glycogen storage disease type III with muscle involvement: reappraisal of phenotypic variability and prognosis.

Improved splice site detection in Genie.

A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.

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s11033-013-2500-z

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4197-4202

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scholarly article

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10.1007/S11033-013-2500-Z

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François Petit

Sonia Abdelhak

Khaled Lasram

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2013-05-08T00:00:00Z

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1016974367

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Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.

about

P2860

P2860

Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.

description

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P1433

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P2093

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