Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.
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SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transportersInspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance.The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.Disruption of Slc52a3 gene causes neonatal lethality with riboflavin deficiency in mice.Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experienceSLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiationFour cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings.Riboflavin uptake transporter Slc52a2 (RFVT2) is upregulated in the mouse mammary gland during lactation.A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family.A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene: Clinical Course and Response to Riboflavin.Reversible posterior column dysfunction in Brown-Vialetto-Von Laere syndrome.
P2860
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P2860
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.
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2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年學術文章
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2012年學術文章
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name
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.
@en
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.
@nl
type
label
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.
@en
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.
@nl
prefLabel
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.
@en
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.
@nl
P2093
P2860
P356
P1476
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.
@en
P2093
Elahe Elahi
Mitra Ansari Dezfouli
Samira Yadegari
P2860
P2888
P304
P356
10.1038/JHG.2012.70
P577
2012-06-21T00:00:00Z