| 1 |
34957905 | Hb Dahua [β59(E3)Lys→Met; HBB: c.179A>T] a Novel Variant on the β-Globin Gene. | 2021 Sep |
2 |
| 2 |
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 |
| 3 |
28395541 | Hb Presbyterian (HBB: c.327C>G) in a Nicaraguan Family. | 2017 Jan |
1 |
| 4 |
26719496 | Alexander Disease: A Novel Mutation in GFAP Leading to Epilepsia Partialis Continua. | 2016 Jun |
1 |
| 5 |
26864977 | Hb Agenogi [β90(F6)Glu→Lys (GAG>AAG) HBB: c.271G>A)] in a Pregnant Thai Woman. | 2016 |
1 |
| 6 |
27250824 | Hb San Cataldo [β144(HC1)Lys→Thr; HBB: C.434A > C]: A New Hemoglobin Variant with Increased Affinity for Oxygen. | 2016 Aug |
1 |
| 7 |
25897479 | α(+)-Thalassemia Due to a Frameshift Mutation of the α2-Globin Gene [codons 55/56 (+T) or HBA2: c.168dup]. | 2015 |
1 |
| 8 |
21985917 | Prevalence of the DNA repair enzyme-NEIL1 gene mutation in patients with type 2 diabetes in the Turkish population. | 2012 Apr |
2 |
| 9 |
22227389 | Human tRNA(Lys3)(UUU) is pre-structured by natural modifications for cognate and wobble codon binding through keto-enol tautomerism. | 2012 Mar 2 |
1 |
| 10 |
26889411 | Inherited protein S deficiency due to a novel nonsense mutation in the PROS1 gene in the patient with recurrent vascular access thrombosis: A case report. | 2012 Mar |
1 |
| 11 |
19500310 | A novel HLA-DRB1 allele, DRB*1611, is identified in two Taiwanese individuals. | 2009 Aug |
1 |
| 12 |
18764811 | A novel HLA-B*44 allele, HLA-B*4459, identified in a renal patient with aberrant B44 serology and characterized by sequence-based typing. | 2008 Nov |
1 |
| 13 |
17545071 | [AF172993 sequence of Plunc in GenBank database is not the complete CDS]. | 2007 May |
1 |
| 14 |
17555508 | Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene. | 2007 Sep |
1 |
| 15 |
15921168 | Hb Kurosaki [alpha7(A5)Lys -->Glu (AAG --> GAG)]: an alpha2-globin gene mutation found in Thailand. | 2005 |
3 |
| 16 |
15140540 | Lack of association between Caucasian lung cancer risk and O6-methylguanine-DNA methyltransferase-codon 178 genetic polymorphism. | 2004 Jun |
1 |
| 17 |
15558052 | The role of modifications in codon discrimination by tRNA(Lys)UUU. | 2004 Dec |
2 |
| 18 |
12603087 | The codons 8/9 (+G) mutation found for the first time in the Lebanese population. | 2003 Feb |
2 |
| 19 |
12629650 | Variation in enterovirus receptor genes. | 2003 May |
1 |
| 20 |
12653715 | Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix. | 2003 Mar |
2 |
| 21 |
10208646 | Genetic polymorphism of human O6-alkylguanine-DNA alkyltransferase: identification of a missense variation in the active site region. | 1999 Feb |
1 |
| 22 |
10221692 | Androgen receptor gene mutations in 46,XY females with germ cell tumours. | 1999 Mar |
1 |
| 23 |
10571960 | The detection of somatic mutations of thyrotropin receptor gene in fine needle biopsy samples from thyroid nodules. | 1999 Sep |
1 |
| 24 |
10632938 | Keratin 9 mutations in the coil 1A region in epidermolytic palmoplantar keratoderma. | 1999 Nov-Dec |
1 |
| 25 |
9615731 | The mutation status of PAX3 and p53 genes in medulloblastoma. | 1998 Mar-Apr |
1 |
| 26 |
9398839 | Positional cloning of the APECED gene. | 1997 Dec |
1 |
| 27 |
9401066 | Fibrinogen Kaiserslautern (gamma 380 Lys to Asn): a new glycosylated fibrinogen variant with delayed polymerization. | 1997 Dec |
1 |
| 28 |
10325639 | [The research on p53 gene mutation in lung cancer tissue of silicotic patients by PCR-SSCR]. | 1997 Sep |
1 |
| 29 |
8790154 | Fibrinogen Matsumoto II: gamma 308 Asn-->Lys (AAT-->AAG) mutation associated with bleeding tendency. | 1996 Sep |
1 |
| 30 |
9225234 | Identification of two apolipoprotein variants, A-I Kaho (Asp 51-->Val) and A-I Lys 107 deletion. | 1996 |
1 |
| 31 |
7635945 | Dominant expression of type III hyperlipoproteinemia. Pathophysiological insights derived from the structural and kinetic characteristics of ApoE-1 (Lys146-->Glu). | 1995 Aug |
1 |
| 32 |
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 |
| 33 |
1356443 | Apolipoprotein E1 Lys-146----Glu with type III hyperlipoproteinemia. | 1992 Sep 22 |
1 |
| 34 |
1364220 | Detection of hemoglobin E heterozygotes by using polymerase chain reaction and direct DNA sequencing: report of a case. | 1992 Feb |
1 |
| 35 |
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 |
| 36 |
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 |
| 37 |
1677358 | Three genetic variants of human plasma apolipoprotein A-IV. apoA-IV-1(Thr347----Ser), apoA-IV-0(Lys167----Glu,Gln360----His), and apoA-IV-3(Glu165----Lys). | 1991 Jul 25 |
1 |
| 38 |
1685643 | A mutation in the prion protein gene in Creutzfeldt-Jakob disease in Jewish patients of Libyan, Greek, and Tunisian origin. | 1991 |
1 |
| 39 |
1973167 | Molecular defect (Gla+14----Lys) and its functional consequences in a hereditary factor X deficiency (factor X "Vorarlberg"). | 1990 Jul 15 |
1 |
| 40 |
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 |
| 41 |
3783686 | Effects of post-transcriptional base modifications on the site-specific function of transfer RNA in eukaryote translation. | 1986 Jun 20 |
1 |
| 42 |
88735 | beta 0 thalassemia, a nonsense mutation in man. | 1979 Jun |
1 |
| 43 |
836035 | Lysine transfer RNA from liver: a sulfur-containing species that codes for AAG. | 1977 Jan 15 |
1 |