Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?
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Suggested guidelines for the diagnosis and management of urea cycle disordersMolecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerationsA review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.Identification and MS-assisted interpretation of genetically influenced NMR signals in human plasma.Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.Detection and impact of rare regulatory variants in human disease.
P2860
Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?
description
2009 nî lūn-bûn
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2009年の論文
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2009年学术文章
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2009年学术文章
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2009年学术文章
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2009年学术文章
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2009年学术文章
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2009年学术文章
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2009年學術文章
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name
Highly variable clinical pheno ...... variation in gene expression?
@en
Highly variable clinical pheno ...... variation in gene expression?
@nl
type
label
Highly variable clinical pheno ...... variation in gene expression?
@en
Highly variable clinical pheno ...... variation in gene expression?
@nl
prefLabel
Highly variable clinical pheno ...... variation in gene expression?
@en
Highly variable clinical pheno ...... variation in gene expression?
@nl
P2093
P1433
P1476
Highly variable clinical pheno ...... variation in gene expression?
@en
P2093
B Minassian
E Christensen
K Roebrock
N Israelian
T Vermeulen
P304
P356
10.1111/J.1399-0004.2009.01216.X
P50
P577
2009-09-01T00:00:00Z