Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype

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Related Experiment Videos

Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I

Related Concept Videos

Early disease course is unaltered in mucopolysaccharidosis type IIIA (MPS IIIA) mice lacking α-synuclein.

Genomewide DNA methylation analysis in combat veterans reveals a novel locus for PTSD.

A four-gene LincRNA expression signature predicts risk in multiple cohorts of acute myeloid leukemia patients.

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A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.

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CaMKIIβ Signaling drives expression of metabolic and stress response genes in skeletal muscle, and its loss contributes to the LGMDR1 phenotype.

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Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population.

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Myofibrillar myopathy-associated KY protein promotes muscle fibre size rescue independent of its predicted catalytic triad.

In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.

Brain dynamics and creativity: Investigating the relationship between 1/f patterns of the resting-state EEG and divergent thinking.

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Related Experiment Videos

Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I...

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Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I