FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions.
about
High-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 patientsAntisense transcripts with FANTOM2 clone set and their implications for gene regulation.Molecular mechanisms in Angelman syndrome: a survey of 93 patients.The Prader-Willi syndrome.A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome.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.Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromesCytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.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.Expression of functional GABAA receptors in cholecystokinin-secreting gut neuroendocrine murine STC-1 cells.The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids.A male with a de novo translocation involving loss of 15q11q13 material and Prader-Willi syndrome.Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy.Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder.Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization.Genetic approaches to CNS disorders with particular reference to GABAA-receptor mutations.
P2860
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P2860
FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions.
description
1993 nî lūn-bûn
@nan
1993 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
FISH ordering of reference mar ...... syndrome chromosomal regions.
@ast
FISH ordering of reference mar ...... syndrome chromosomal regions.
@en
FISH ordering of reference mar ...... mma-aminobutyric acid receptor
@nl
type
label
FISH ordering of reference mar ...... syndrome chromosomal regions.
@ast
FISH ordering of reference mar ...... syndrome chromosomal regions.
@en
FISH ordering of reference mar ...... mma-aminobutyric acid receptor
@nl
prefLabel
FISH ordering of reference mar ...... syndrome chromosomal regions.
@ast
FISH ordering of reference mar ...... syndrome chromosomal regions.
@en
FISH ordering of reference mar ...... mma-aminobutyric acid receptor
@nl
P2093
P356
P1476
FISH ordering of reference mar ...... syndrome chromosomal regions.
@en
P2093
Wagstaff J
Whiting PM
Wingrove P
P304
P356
10.1093/HMG/2.2.183
P577
1993-02-01T00:00:00Z