ASS1 mutation leading to citrullinemia I in a Chinese Han family / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 630-633, 2011.
Article
em Zh
| WPRIM
| ID: wpr-295566
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To investigate potential mutation of the ASS1 gene in a male infant with acute citrullinemia type I.</p><p><b>METHODS</b>Genomic DNA was prepared from peripheral blood samples of the family members. Mutation analysis of the 14 ASS1 exons was carried out by PCR and direct DNA sequencing.</p><p><b>RESULTS</b>A homozygous missense mutation of c.970G>A located in exon 13, which results in p.G324S, was identified in the child. Sequencing of the parents showed a heterozygous status for the same mutation.</p><p><b>CONCLUSION</b>A missense mutation of c.970G>A in the ASS1 gene is responsible for the pathogenesis of the disease in the infant.</p>
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Argininossuccinato Sintase
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Conformação Proteica
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Dados de Sequência Molecular
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Sequência de Bases
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Modelos Moleculares
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Química
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Alinhamento de Sequência
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Sequência de Aminoácidos
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Análise de Sequência de DNA
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Substituição de Aminoácidos
Tipo de estudo:
Prognostic_studies
Limite:
Humans
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Infant
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2011
Tipo de documento:
Article