+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population

, : May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population. Physiological Research 55 Suppl 2: S119-S136

Acute intermittent porphyria (AIP) is an autosomal dominant disorder of heme biosynthesis caused by molecular defects in the porphobilinogen deaminase (PBGD) gene. This paper reviews published mutations, their types, and polymorphisms within the PBGD gene. To date, 301 different mutations and 21 polymorphisms have been identified in the PBGD gene in AIP patients and individuals from various countries and ethnic groups. During the search for mutations identified among Slavic AIP patients we found 65 such mutations and concluded that there is not a distinct predominance of certain mutations in Slavs.


PMID: 17298216

Other references

Lee, T.S.; Wright, B.D., 1981: Fulminating chromobacterial septicaemia presenting as respiratory distress syndrome. Thorax 36(7): 557-559

Antczak Bouckoms A.; Chang R.; White B.A.; Capilouto E., 1989: Lack of evidence for the predictive value of hairy leukoplakia in hiv infection. Journal of Dental Research 68(SPEC ISSUE JUNE): 958

Chandler, J.M., 1976: Broadleaf weed control with combinations of MBR 123 25 and selected herbicides. In general, post-em. applications of MBR 12 325 (5-trifluoromethylsulphonylamino-2,4-acetoxylidide) at 0.29 and 0.57 kg/ha with fluometuron or methazole were additive in effect against the broad-leaved annuals assessed. The combination of MSMA and...

Chowdhury, S.R.; Halder, K.; Chaudhuri, N., 1965: Alkaline Phosphatase Activity During Pregnancy And Puerperium In Indian Women. Indian Journal of Medical Sciences 19: 493-499

Anis, M., 1983: Occurrence and meiotic behaviour of B-chromosome in Butea monosperma (Roxb.) Taud. Journal of tree sciences(1-2): 101-103

Tammariells, R.V., 1970: The action of colcemid in causing bud retention in Hydra viridis. Diss. Abstr.: 30B 3499

Fabiani, G.; Clausse, J.; Fulchiron, G., 1952: Relations between blood reticulocytosis and the infection of a white rat with Plasmodium berghei. Comptes Rendus des Seances de la Societe de Biologie et de Ses Filiales 146(19-20): 1580-1584

Macedo, T.; Silva-Oliveira, R.J.; Silva, V.A.O.; Vidal, D.O.; Evangelista, A.F.; Marques, M.M.C., 2017: Overexpression of mir-183 and mir-494 promotes proliferation and migration in human breast cancer cell lines. Breast cancer (BC) is a leading cause of cancer-associated mortality in females worldwide. MicroRNAs (miRNAs or miRs), a type of non-coding RNA, have been reported to be important in the regulation of <i>BC</i> onset and progression. S...

Ehrich, D.G., 1993: Drying periapical films: simplified chairside technique. A technique is presented for constructing a chairside radiograph dryer to be used after manual developing of films in the operatory. It is of simple construction using household items and common dental laboratory materials.

Chen, Cy, 1980: Physiological studies on the f. Li kung hsueh pao = Journal of science and engineering: (17) 161-174