Acute intermittent porphyria in Argentina: an update.

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Acute intermittent porphyria precipitated by atazanavir/ritonavir.Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease.

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Acute intermittent porphyria in Argentina: an update.

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2015 nî lūn-bûn

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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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2015年论文

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2015年论文

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Acute intermittent porphyria in Argentina: an update.

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Acute intermittent porphyria in Argentina: an update.

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Acute intermittent porphyria in Argentina: an update.

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Acute intermittent porphyria in Argentina: an update.

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Acute intermittent porphyria in Argentina: an update.

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Acute intermittent porphyria in Argentina: an update.

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P1476

Acute intermittent porphyria in Argentina: an update

@en

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Esther Noemí Gerez

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Gabriela Nora Cerbino

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Laura Sabina Varela

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María Victoria Rossetti

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Victoria Estela Parera

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Viviana Alicia Melito

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P2860

Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria

Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria

Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease

Structural insight into acute intermittent porphyria

Structure of human porphobilinogen deaminase at 2.8 A: the molecular basis of acute intermittent porphyria

Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors

Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients

Homozygous variegate porphyria: an evolving clinical syndrome

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria

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946387

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scholarly article

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10.1155/2015/946387

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English

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2015

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Alcira Batlle

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2015-05-17T00:00:00Z

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277912578

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26075277

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Argentina

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4449928

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Acute intermittent porphyria in Argentina: an update.

about

P2860

P2860

Acute intermittent porphyria in Argentina: an update.

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P1476

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P2860

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P698

P921

P932