Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene
about
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry diseaseHeterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidusOn the mechanism of gene amplification induced under stress in Escherichia coliGenomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpressionUneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.Related individuals with different androgen receptor gene deletions.Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complexHomologous recombination among three intragene Alu sequences causes an inversion-deletion resulting in the hereditary bleeding disorder Glanzmann thrombasthenia.Ionizing radiation and restriction enzymes induce microhomology-mediated illegitimate recombination in Saccharomyces cerevisiae.The transposon-driven evolutionary origin and basis of histone deacetylase functions and limitations in disease prevention.Formation of large deletions by illegitimate recombination in the HPRT gene of primary human fibroblasts.Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.Increased expression of Trpv1 in peripheral terminals mediates thermal nociception in Fabry disease mouse model.Ionizing radiation induces microhomology-mediated end joining in trans in yeast and mammalian cells.Characterization of the AD7C-NTP cDNA expression in Alzheimer's disease and measurement of a 41-kD protein in cerebrospinal fluid.One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi.Transformation of a novel direct-repeat repressor element into a promoter and enhancer by multimerisation.A mechanism for deletion formation in DNA by human cell extracts: the involvement of short sequence repeats.Correlations between long inverted repeat (LIR) features, deletion size and distance from breakpoint in human gross gene deletions.DNA inversions between short inverted repeats in Escherichia coli.Fabry disease
P2860
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P2860
Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene
description
1990 nî lūn-bûn
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1990 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
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name
Alpha-galactosidase A gene rea ...... reakpoints in an Alu-rich gene
@ast
Alpha-galactosidase A gene rea ...... reakpoints in an Alu-rich gene
@en
Alpha-galactosidase A gene rea ...... reakpoints in an Alu-rich gene
@en-gb
Alpha-galactosidase A gene rea ...... reakpoints in an Alu-rich gene
@nl
type
label
Alpha-galactosidase A gene rea ...... reakpoints in an Alu-rich gene
@ast
Alpha-galactosidase A gene rea ...... reakpoints in an Alu-rich gene
@en
Alpha-galactosidase A gene rea ...... reakpoints in an Alu-rich gene
@en-gb
Alpha-galactosidase A gene rea ...... reakpoints in an Alu-rich gene
@nl
prefLabel
Alpha-galactosidase A gene rea ...... reakpoints in an Alu-rich gene
@ast
Alpha-galactosidase A gene rea ...... reakpoints in an Alu-rich gene
@en
Alpha-galactosidase A gene rea ...... reakpoints in an Alu-rich gene
@en-gb
Alpha-galactosidase A gene rea ...... reakpoints in an Alu-rich gene
@nl
P2093
P3181
P1476
Alpha-galactosidase A gene rea ...... reakpoints in an Alu-rich gene
@en
P2093
Desnick RJ
Kornreich R
P304
P3181
P407
P577
1990-06-01T00:00:00Z