Chromosomal fragility in patients with triple A syndrome
about
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case reportThe triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complexDeficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanismOxidative stress and adrenocortical insufficiency.Nuclear stress bodies.Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases.Stress-induced transcription of satellite III repeats.Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.
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P2860
Chromosomal fragility in patients with triple A syndrome
description
im Februar 2003 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в лютому 2003
@uk
name
Chromosomal fragility in patients with triple A syndrome
@en
Chromosomal fragility in patients with triple A syndrome
@nl
type
label
Chromosomal fragility in patients with triple A syndrome
@en
Chromosomal fragility in patients with triple A syndrome
@nl
prefLabel
Chromosomal fragility in patients with triple A syndrome
@en
Chromosomal fragility in patients with triple A syndrome
@nl
P2093
P356
P1476
Chromosomal fragility in patients with triple A syndrome
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P2093
Adrian J L Clark
Angela Huebner
David N Finegold
Katrin Handschug
Shalini Reshmi-Skarja
Susanne M Gollin
P2860
P356
10.1002/AJMG.A.10846
P407
P577
2003-02-15T00:00:00Z