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Page last updated: 2024-10-17

cytosine and Porphyria, Acute Intermittent

cytosine has been researched along with Porphyria, Acute Intermittent in 2 studies

Porphyria, Acute Intermittent: An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (100.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Daimon, M2
Yamatani, K2
Igarashi, M2
Fukase, N2
Morita, Y1
Ogawa, A2
Tominaga, M2
Sasaki, H2

Other Studies

2 other studies available for cytosine and Porphyria, Acute Intermittent

ArticleYear
Acute intermittent porphyria caused by a single base insertion of C in exon 15 of the porphobilinogen deaminase gene that results in a frame shift and premature stopping of translation.
    Human genetics, 1994, Volume: 93, Issue:5

    Topics: Amino Acid Sequence; Base Sequence; Cytosine; DNA Primers; Exons; Frameshift Mutation; Humans; Hydro

1994
Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping.
    Human genetics, 1993, Volume: 92, Issue:6

    Topics: Adult; Alleles; Base Sequence; Cytosine; DNA; DNA Primers; Electrophoresis, Polyacrylamide Gel; Exon

1993