| 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 |