Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome
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sameAs
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case reportThe nuclear pore complex protein ALADIN is mislocalized in triple A syndromeProteomic analysis of the mammalian nuclear pore complexA novel AAAS gene mutation (p.R194X) in a patient with triple A syndromeThe triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complexNew insights into the molecular basis of the triple A syndrome.Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.
P2860
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P2860
Clinical and novel molecular findings in a 6.8-year-old Turkish boy with triple A syndrome
description
2001 nî lūn-bûn
@nan
2001 թուականին հրատարակուած գիտական յօդուած
@hyw
2001 թվականին հրատարակված գիտական հոդված
@hy
2001年の論文
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2001年論文
@yue
2001年論文
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2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
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2001年论文
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name
Clinical and novel molecular f ...... ish boy with triple A syndrome
@ast
Clinical and novel molecular f ...... ish boy with triple A syndrome
@en
Clinical and novel molecular f ...... ish boy with triple A syndrome
@nl
type
label
Clinical and novel molecular f ...... ish boy with triple A syndrome
@ast
Clinical and novel molecular f ...... ish boy with triple A syndrome
@en
Clinical and novel molecular f ...... ish boy with triple A syndrome
@nl
prefLabel
Clinical and novel molecular f ...... ish boy with triple A syndrome
@ast
Clinical and novel molecular f ...... ish boy with triple A syndrome
@en
Clinical and novel molecular f ...... ish boy with triple A syndrome
@nl
P2093
P356
P1433
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Clinical and novel molecular f ...... ish boy with triple A syndrome
@en
P2093
A Richter-Unruh
B P Hauffa
K Schmittmann-Ohters
P356
10.1159/000048093
P407
P577
2001-01-01T00:00:00Z