Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activity - Wikidata - awgldk - TriplyDB

Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activity

Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activity

http://www.wikidata.org/entity/Q34860604

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Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolism A novel mutation of ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.

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P2860

Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activity

http://www.wikidata.org/entity/Q34860604

description

2011 nî lūn-bûn

@nan

2011 թուականի Մարտին հրատարակուած գիտական յօդուած

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2011 թվականի մարտին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Familial 6p22.2 duplication as ...... y and increased SSADH activity

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Familial 6p22.2 duplication as ...... y and increased SSADH activity

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Familial 6p22.2 duplication as ...... y and increased SSADH activity

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Familial 6p22.2 duplication as ...... y and increased SSADH activity

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Familial 6p22.2 duplication as ...... y and increased SSADH activity

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Familial 6p22.2 duplication as ...... y and increased SSADH activity

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Familial 6p22.2 duplication as ...... y and increased SSADH activity

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Familial 6p22.2 duplication as ...... y and increased SSADH activity

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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

P1476

Familial 6p22.2 duplication as ...... y and increased SSADH activity

@en

P2093

Aki Mustonen

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

Birthe Roos

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

Cornelis Jakobs

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Gajja S Salomons

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Jaakko Ignatius

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K Michael Gibson

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Linda Siggberg

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Robert Schuit

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Sakari Knuutila

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P2860

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia.

Redox-switch modulation of human SSADH by dynamic catalytic loop

A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability

Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice)

Oxidation of 4-hydroxy-2-nonenal by succinic semialdehyde dehydrogenase (ALDH5A)

Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria).

Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.

Intellectual disability: definition, etiological factors, classification, diagnosis, treatment and prognosis.

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448-453

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scholarly article

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10.1002/AJMG.B.31180

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4

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156B

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50852470

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21438145

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3082589

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