Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation.
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Synopsis of investigations into proposed theories on the etiology of achalasia.A Novel V185DfsX4 Mutation of the AAAS Gene in a 2-year-old Boy with Triple A SyndromePhenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature."Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports.
P2860
Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 03 January 2008
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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name
Three siblings with triple A s ...... frequent p.Ser263Pro mutation.
@en
Three siblings with triple A s ...... frequent p.Ser263Pro mutation.
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type
label
Three siblings with triple A s ...... frequent p.Ser263Pro mutation.
@en
Three siblings with triple A s ...... frequent p.Ser263Pro mutation.
@nl
prefLabel
Three siblings with triple A s ...... frequent p.Ser263Pro mutation.
@en
Three siblings with triple A s ...... frequent p.Ser263Pro mutation.
@nl
P2093
P1476
Three siblings with triple A s ...... frequent p.Ser263Pro mutation.
@en
P2093
Angela Huebner
Dragan Zdravković
Katrin Koehler
Manuela Krumbholz
Sladjana Zivanović
Tatjana Milenković
P2888
P304
P356
10.1007/S00431-007-0640-7
P577
2008-01-03T00:00:00Z