Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.

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2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年學術文章

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2015年學術文章

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Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.

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Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.

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Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.

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Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.

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Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.

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Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.

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P1476

Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.

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P2093

Karl Elmo Anderson

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Vaithamanithi-Mudumbai Sadagopa Ramanujam

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Structural basis of hereditary coproporphyria.

Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation

Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.

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

Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts

Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda

An inherited enzymatic defect in porphyria cutanea tarda: decreased uroporphyrinogen decarboxylase activity

C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload

The "insanity" of King George 3d: a classic case of porphyria

Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria

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17.20.1-26

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scholarly article

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10.1002/0471142905.HG1720S86

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2015-07-01T00:00:00Z

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26132003

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4640448

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