TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.

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TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.

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2017 nî lūn-bûn

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2017年学术文章

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TUBB4A mutations result in spe ...... linically distinct phenotypes.

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TUBB4A mutations result in spe ...... linically distinct phenotypes.

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TUBB4A mutations result in spe ...... linically distinct phenotypes.

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TUBB4A mutations result in spe ...... linically distinct phenotypes.

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TUBB4A mutations result in spe ...... linically distinct phenotypes.

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TUBB4A mutations result in spe ...... linically distinct phenotypes.

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P1476

TUBB4A mutations result in spe ...... linically distinct phenotypes.

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P2093

Adeline Vanderver

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Asako Takanohashi

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Bruce Nmezi

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Guillermo Rodríguez Bey

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Guy Helman

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Judy Liu

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Julian Curiel

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Marianna Bugiani

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Marjo S van der Knaap

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Mona Bugaighis

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P2860

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

Refined structure of alpha beta-tubulin at 3.5 A resolution

Molecular Basis for Specific Regulation of Neuronal Kinesin-3 Motors by Doublecortin Family Proteins

Structure of a kinesin-tubulin complex and implications for kinesin motility

A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information

Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy.

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scholarly article

P356

10.1093/HMG/DDX338

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Nicole I Wolf

Cas Simons

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2017-08-29T00:00:00Z

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28973395

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