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Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria

Data up to Jan 2025

Published1998
Citations31
References26

Total Citations Per Year

Abstract

References (26)

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1989 • 122 citations

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Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene

1995 • 104 citations

A Microassay for Uroporphyrinogen I Synthase, One of Three Abnormal Enzyme Activities in Acute Intermittent Porphyria, and its Application to the Study of the Genetics of this Disease

1974 • 98 citations

Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase

1989 • 73 citations

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Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in Finland.

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1995 • 35 citations

Recurrence risk estimation of acute intermittent porphyria based on analysis of porphobilinogen deaminase activity: A Bayesian approach

1984 • 29 citations

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1994 • 28 citations

Dual porphyria in double heterozygotes with porphobilinogen deaminase and uroporphyrinogen decarboxylase deficiencies

1989 • 23 citations

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Haem precursors and porphobilinogen deaminase in erythrocytes and lymphocytes of patients with acute intermittent porphyria.

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Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the… (1998) – Human Genetics | Metascience Observatory Explorer