Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1.

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Endoplasmic reticulum-resident selenoproteins as regulators of calcium signaling and homeostasis.

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Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1.

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Targeted next generation seque ...... id spine muscular dystrophy 1.

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Targeted next generation seque ...... id spine muscular dystrophy 1.

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Targeted next generation seque ...... id spine muscular dystrophy 1.

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Targeted next generation seque ...... id spine muscular dystrophy 1.

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Targeted next generation seque ...... id spine muscular dystrophy 1.

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Targeted next generation seque ...... id spine muscular dystrophy 1.

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Targeted next generation seque ...... id spine muscular dystrophy 1.

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Lin Chen

http://www.w3.org/2001/XMLSchema#string

Santasree Banerjee

http://www.w3.org/2001/XMLSchema#string

Shengran Liang

http://www.w3.org/2001/XMLSchema#string

Yan Huang

http://www.w3.org/2001/XMLSchema#string

Yi Dai

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P2860

Reconsidering the evolution of eukaryotic selenoproteins: a novel nonmammalian family with scattered phylogenetic distribution.

The SBP2 and 15.5 kD/Snu13p proteins share the same RNA binding domain: identification of SBP2 amino acids important to SECIS RNA binding.

A novel RNA binding protein, SBP2, is required for the translation of mammalian selenoprotein mRNAs

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

Finding needles in a haystack. In silico identification of eukaryotic selenoprotein genes

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

A splicing-dependent regulatory mechanism that detects translation signals.

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83843-83849

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scholarly article

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10.18632/ONCOTARGET.13337

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English

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2016-11-14T00:00:00Z

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Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1.

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P2860

P2860

Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1.

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