A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report

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A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report

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scientific article published on 25 August 2018

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wetenschappelijk artikel

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наукова стаття, опублікована в серпні 2018

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A novel MFSD8 mutation in a Ru ...... scinosis type 7: a case report

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A novel MFSD8 mutation in a Ru ...... scinosis type 7: a case report

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A novel MFSD8 mutation in a Ru ...... scinosis type 7: a case report

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A novel MFSD8 mutation in a Ru ...... scinosis type 7: a case report

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A novel MFSD8 mutation in a Ru ...... scinosis type 7: a case report

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A novel MFSD8 mutation in a Ru ...... scinosis type 7: a case report

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P1476

A novel MFSD8 mutation in a Ru ...... scinosis type 7: a case report

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Anastasiya Aleksandrovna Kozina

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Anna Nikolaevna Larionova

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Anna Yurievna Krasnenko

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Elena Grigorievna Okuneva

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Natalia Vladimirovna Baryshnikova

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Olesya Igorevna Klimchuk

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Olga Borisovna Kondakova

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Tatyana Timofeevna Batysheva

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P2860

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

Major facilitator superfamily

Fast and accurate short read alignment with Burrows-Wheeler transform

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter

A global reference for human genetic variation

Analysis of protein-coding genetic variation in 60,706 humans

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis

ClinVar: public archive of interpretations of clinically relevant variants

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s12881-018-0669-7

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151

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scholarly article

case report

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10.1186/S12881-018-0669-7

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English

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2018-08-25T00:00:00Z

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1106339706

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30144815

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6109285

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