| Unbound MEDLINE results for: | Bookmark this site | | Articles related to 18554962 [Unique ID], provided by the PubMed system | |
| |
|
| | 1 - 10 of 101 journal articles in the PubMed database | Email to a friend | | |
| Sakabe JI, Susa S, Daimon M, et al.
A novel 12-base pair deletion mutation in exon 15 of the porphobilinogen deaminase gene in a Taiwanese patient with acute intermittent porphyria. [LETTER]
Blood Cells Mol Dis 2008 Jun 11.
Full Citation | Find Related Articles | | Schreiber WE, Fong F, Jamani A
Frameshift mutations in exons 9 and 10 of the porphobilinogen deaminase gene produce a crossreacting immunological material (CRIM)-negative form of acute intermittent porphyria. [Journal Article]
Hum Genet 1994 May; 93(5):552-6.
Abstract | Full Citation | Find Related Articles | | Rosipal R, Puy H, Lamoril J, et al.
Molecular analysis of porphobilinogen (PBG) deaminase gene mutations in acute intermittent porphyria: first study in patients of Slavic origin. [Journal Article]
Scand J Clin Lab Invest 1997 May; 57(3):217-24.
Abstract | Full Citation | Find Related Articles | | Lundin G, Lee JS, Thunell S, et al.
Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families. [Journal Article]
Hum Genet 1997 Jul; 100(1):63-6.
Abstract | Full Citation | Find Related Articles | | Mgone CS, Lanyon WG, Moore MR, et al.
Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria. [Journal Article]
Hum Genet 1993 Dec; 92(6):619-22.
Abstract | Full Citation | Find Related Articles | | Llewellyn DH, Smyth SJ, Elder GH, et al.
Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene. [Journal Article]
Hum Genet 1992 Apr; 89(1):97-8.
Abstract | Full Citation | Find Related Articles | | Gross U, Honcamp M, Doss MO
Heterogeneity of acute intermittent porphyria: a subtype with normal erythrocyte porphobilinogen deaminase activity in Germany. [Journal Article]
Eur J Clin Chem Clin Biochem 1996 Aug; 34(8):613-8.
Abstract | Full Citation | Find Related Articles | | Daimon M, Yamatani K, Igarashi M, et al.
Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping. [Journal Article]
Hum Genet 1993 Dec; 92(6):549-53.
Abstract | Full Citation | Find Related Articles | | Morita Y, Daimon M, Kashiwaba M, et al.
A point mutation, C to T, in exon 8 of the porphobilinogen deaminase gene in a Japanese family with acute intermittent porphyria. [Case Reports, Journal Article]
Jpn J Hum Genet 1995 Jun; 40(2):207-13.
Abstract | Full Citation | Find Related Articles |   |
|
| |
Advertise on this site.
|
New! 