Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15
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Human chromosomal localization of genes encoding the gamma 1 and gamma 2 subunits of the gamma-aminobutyric acid receptor indicates that members of this gene family are often clustered in the genomeHigh-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patientsClinical and Neurobiological Relevance of Current Animal Models of Autism Spectrum Disorders.Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behaviorCellular epigenetic modifications of neural stem cell differentiationAntisense transcripts with FANTOM2 clone set and their implications for gene regulation.New insight into the role of the beta3 subunit of the GABAA-R in development, behavior, body weight regulation, and anesthesia revealed by conditional gene knockout.Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndromeMolecular mechanisms in Angelman syndrome: a survey of 93 patients.Benign adult familial myoclonus epilepsy (BAFME): an autosomal dominant form not linked to the dentatorubral pallidoluysian atrophy (DRPLA) gene.Large inv dup(15) chromosome in two generationsMutations affecting GABAergic signaling in seizures and epilepsy.Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus.Phenotypic consequences of deletion of the gamma 3, alpha 5, or beta 3 subunit of the type A gamma-aminobutyric acid receptor in miceLinkage analysis in familial Angelman syndrome.Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients.Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse.Concordance between isolated cleft palate in mice and alterations within a region including the gene encoding the beta 3 subunit of the type A gamma-aminobutyric acid receptor.A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromesIdentifying essential cell types and circuits in autism spectrum disorders.Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13.A male with a de novo translocation involving loss of 15q11q13 material and Prader-Willi syndrome.Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.Elevated plasma gamma-aminobutyric acid (GABA) levels in individuals with either Prader-Willi syndrome or Angelman syndrome.Anesthetic Considerations for Angelman Syndrome: Case Series and Review of the Literature.Comments on important genetic topics from papers in other journals: Localisation of the gene encoding the GABAa receptor β3 subunit to the Angelman/Prader-Willi region of human chromosome 15.
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P2860
Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15
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1991 nî lūn-bûn
@nan
1991 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1991年の論文
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1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
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name
Localization of the gene encod ...... region of human chromosome 15
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Localization of the gene encod ...... region of human chromosome 15
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Localization of the gene encod ...... region of human chromosome 15
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type
label
Localization of the gene encod ...... region of human chromosome 15
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Localization of the gene encod ...... region of human chromosome 15
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Localization of the gene encod ...... region of human chromosome 15
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prefLabel
Localization of the gene encod ...... region of human chromosome 15
@ast
Localization of the gene encod ...... region of human chromosome 15
@en
Localization of the gene encod ...... region of human chromosome 15
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P2093
P2860
P3181
P1476
Localization of the gene encod ...... region of human chromosome 15
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P2093
A Martin-Gallardo
E F Kirkness
F Greenberg
J M Graham
J Menninger
J Wagstaff
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P3181
P407
P577
1991-08-01T00:00:00Z