16 Article(s)Download |
PMID | Title | Pub. Year | #Total Relationships |
1 | 31450984 | Coinheritance of Hb A2-Melbourne (HBD: c.130G>A) and Hb E (HBB: c.79G>A) in Laos and Simultaneous High Resolution Melt Detection of Hb A2-Melbourne and Hb A2-Lampang (HBD: c.142G>A) in a Single Tube. | 2019 May | 1 |
2 | 26719496 | Alexander Disease: A Novel Mutation in GFAP Leading to Epilepsia Partialis Continua. | 2016 Jun | 1 |
3 | 19500310 | A novel HLA-DRB1 allele, DRB*1611, is identified in two Taiwanese individuals. | 2009 Aug | 1 |
4 | 19876867 | Concurrent sequence variation of TP53 and TP73 genes in anaplastic astrocytoma. | 2009 Oct 20 | 1 |
5 | 15921168 | Hb Kurosaki [alpha7(A5)Lys -->Glu (AAG --> GAG)]: an alpha2-globin gene mutation found in Thailand. | 2005 | 2 |
6 | 11380459 | Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III. | 2001 Jun | 1 |
7 | 10660595 | Mutation of a unique aspartate residue abolishes the catalytic activity but not substrate binding of the mouse N-methylpurine-DNA glycosylase (MPG). | 2000 Feb 11 | 2 |
8 | 9398839 | Positional cloning of the APECED gene. | 1997 Dec | 1 |
9 | 7635945 | Dominant expression of type III hyperlipoproteinemia. Pathophysiological insights derived from the structural and kinetic characteristics of ApoE-1 (Lys146-->Glu). | 1995 Aug | 1 |
10 | 7912945 | [Three patients from two families with familial Creutzfeldt-Jakob disease having a point mutation in the prion protein gene at codon 200 (Glu-->Lys)]. | 1994 Apr | 1 |
11 | 1356443 | Apolipoprotein E1 Lys-146----Glu with type III hyperlipoproteinemia. | 1992 Sep 22 | 1 |
12 | 1364220 | Detection of hemoglobin E heterozygotes by using polymerase chain reaction and direct DNA sequencing: report of a case. | 1992 Feb | 1 |
13 | 1520883 | Band 3 Memphis: a widespread polymorphism with abnormal electrophoretic mobility of erythrocyte band 3 protein caused by substitution AAG----GAG (Lys----Glu) in codon 56. | 1992 Sep 15 | 1 |
14 | 1674745 | Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia. | 1991 Jun 5 | 1 |
15 | 1685643 | A mutation in the prion protein gene in Creutzfeldt-Jakob disease in Jewish patients of Libyan, Greek, and Tunisian origin. | 1991 | 1 |
16 | 1973689 | Human plasma apolipoproteins A-IV-0 and A-IV-3. Molecular basis for two rare variants of apolipoprotein A-IV-1. | 1990 Jul 25 | 1 |