Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome.
about
Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa.Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literatureThe RNA exosome and RNA exosome-linked disease.Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome.
P2860
Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome.
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2015 nî lūn-bûn
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2015 թուականի Յունուարին հրատարակուած գիտական յօդուած
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2015 թվականի հունվարին հրատարակված գիտական հոդված
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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name
Novel TTC37 Mutations in a Pat ...... Trichohepatoenteric Syndrome.
@ast
Novel TTC37 Mutations in a Pat ...... Trichohepatoenteric Syndrome.
@en
type
label
Novel TTC37 Mutations in a Pat ...... Trichohepatoenteric Syndrome.
@ast
Novel TTC37 Mutations in a Pat ...... Trichohepatoenteric Syndrome.
@en
prefLabel
Novel TTC37 Mutations in a Pat ...... Trichohepatoenteric Syndrome.
@ast
Novel TTC37 Mutations in a Pat ...... Trichohepatoenteric Syndrome.
@en
P2093
P2860
P356
P1476
Novel TTC37 Mutations in a Pat ...... Trichohepatoenteric Syndrome.
@en
P2093
Eric P Hanson
Jean-Laurent Cassanova
Jordan S Orange
Nicholas L Rider
Sergio D Rosenzweig
Soma Jyonouchi
P2860
P356
10.3389/FPED.2015.00002
P577
2015-01-30T00:00:00Z