Canavan disease: mutations among Jewish and non-Jewish patients.
about
Structure of aspartoacylase, the brain enzyme impaired in Canavan diseaseMutational analysis of aspartoacylase: implications for Canavan diseaseDevelopment of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi jewish descentN-Acetylaspartate in the CNS: from neurodiagnostics to neurobiology.Cataloging coding sequence variations in human genome databasesAnal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?High-throughput real-time PCR-based genotyping without DNA purification.Rare copy number deletions predict individual variation in human brain metabolite concentrations in individuals with alcohol use disorders.The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patientsMaking the White Matter Matters: Progress in Understanding Canavan's Disease and Therapeutic Interventions Through Eight Decades.Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148A Novel Mutation in Aspartoacylase Gene; Canavan Disease.Extracellular N-Acetylaspartate in Human Traumatic Brain Injury.Protecting subjects' interests in genetics researchSuppressing N-Acetyl-l-Aspartate Synthesis Prevents Loss of Neurons in a Murine Model of Canavan LeukodystrophyClinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population.Identification and expression of eight novel mutations among non-Jewish patients with Canavan diseasePrevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population.The Clinical Features and Diagnosis of Canavan's Disease: A Case Series of Iranian Patients.
P2860
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P2860
Canavan disease: mutations among Jewish and non-Jewish patients.
description
1994 nî lūn-bûn
@nan
1994 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Canavan disease: mutations among Jewish and non-Jewish patients.
@ast
Canavan disease: mutations among Jewish and non-Jewish patients.
@en
Canavan disease: mutations among Jewish and non-Jewish patients.
@nl
type
label
Canavan disease: mutations among Jewish and non-Jewish patients.
@ast
Canavan disease: mutations among Jewish and non-Jewish patients.
@en
Canavan disease: mutations among Jewish and non-Jewish patients.
@nl
prefLabel
Canavan disease: mutations among Jewish and non-Jewish patients.
@ast
Canavan disease: mutations among Jewish and non-Jewish patients.
@en
Canavan disease: mutations among Jewish and non-Jewish patients.
@nl
P2093
P2860
P1476
Canavan disease: mutations among Jewish and non-Jewish patients.
@en
P2093
Balamurugan K
Petrosky A
P2860
P407
P577
1994-07-01T00:00:00Z