A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome
about
Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.Common variants in the region around Osterix are associated with bone mineral density and growth in childhoodNeurological features in adult Triple-A (Allgrove) syndrome.Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy.Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.Low bone mineral density for age/osteoporosis in triple A syndrome-an overlooked symptom of unexplained etiology.
P2860
A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome
description
2006 nî lūn-bûn
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2006 թուականին հրատարակուած գիտական յօդուած
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2006 թվականին հրատարակված գիտական հոդված
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2006年の論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年论文
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name
A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome
@ast
A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome
@en
A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome
@nl
type
label
A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome
@ast
A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome
@en
A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome
@nl
prefLabel
A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome
@ast
A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome
@en
A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome
@nl
P2093
P2860
P356
P1433
P1476
A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome
@en
P2093
Angela Huebner
Katrin Koehler
Marta Korsic
Mirko Korsic
Tina Dusek
Zdravko Perkovic
P2860
P356
10.1159/000092003
P407
P577
2006-01-01T00:00:00Z