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... impairment of MTHFR activity for  homozygous 
Polymorphisms in the Methylenetetrahydrofolate Reductase Gene
Polymorphisms in the Methylenetetrahydrofolate Reductase Gene
Schwahn, Bernd; Rozen, Rima
mutant individuals. ...
... few mutations that, when presented in the  homozygous 
Lineage Allocation During Early Embryogenesis
Lineage Allocation During Early Embryogenesis
Quinlan, Gabriel A.; Davidson, Bruce P.; Tam, Patrick P. L.
state, lead to significant morphological ...
... Through the study of a patient who had  homozygous 
Autosomal Recessive Juvenile Parkinsonism (AR-JP): Genetic Diagnosis
Autosomal Recessive Juvenile Parkinsonism (AR-JP): Genetic Diagnosis
Matsumine, Hiroto; Hattori, Nobutaka; Mizuno, Yoshikuni
microdeletion of the marker D6S305 (5), ...
... VTE, or were the A1298C or T1317C MTHFR  homozygous 
Genetics University of Toronto Thrombophilia Study in Women (GUTTSI): genetic and other risk factors for venous thromboembolism in women
Genetics University of Toronto Thrombophilia Study in Women (GUTTSI): genetic and other risk factors for venous thromboembolism in women
Ray, Joel G; Langman, Loralie J; Vermeulen, Marian J; Evrovski, Jovan; Yeo, Erik L; Cole, David EC
variants. ...
... (0.34).[16] For the more frequent alleles  homozygous 
Genetic Variation of the β2-Adrenoceptor
Genetic Variation of the β2-Adrenoceptor
Taylor, D. Robin; Kennedy, Martin A.
genotypes are quite common (table I), and ...
... in increased IOP. Albino C57BL/6J mice  homozygous 
Intraocular pressure in genetically distinct mice: an update and strain survey
Intraocular pressure in genetically distinct mice: an update and strain survey
Savinova, Olga V; Sugiyama, Fumihiro; Martin, Janice E; Tomarev, Stanislav I; Paigen, Beverly J; Smith, Richard S; John, Simon WM
for a tyrosinase mutation (Tyrc-2J) have ...
... specific for the wild-type sequence. 2. A  homozygous 
Amplification Refractory Mutation System Analysis of Point Mutations by Capillary Electrophoresis
Amplification Refractory Mutation System Analysis of Point Mutations by Capillary Electrophoresis
Carrera, Paola; Righetti, Pier Giorgio; Gelfi, Cecilia; Ferrari, Maurizio
mutant subject only generates PCR products ...
... gene expression in mice heterozygous or  homozygous 
Gene Targeting in ES Cells
Gene Targeting in ES Cells
DeChiara, Thomas M.
for the mutant locus. ...
... activity of heterozygous (+/–) and  homozygous 
Cholecystokinin2 receptor-deficient mice display altered function of brain dopaminergic system
Cholecystokinin2 receptor-deficient mice display altered function of brain dopaminergic system
Kõks, Sulev; Volke, Vallo; Veraksits, Alar; Rünkorg, Kertu; Sillat, Tarvo; Abramov, Urho; Bourin, Michel; Huotari, Marko; Männistö, Pekka T.; Matsui, Toshimistu; Vasar, Eero
(–/–) CCK2R receptor-deficient mice was ...
... lac operator probe. Southern analysis with  homozygous 
Detection of chromosomes tagged with green fluorescent protein in live Arabidopsis thaliana plants
Detection of chromosomes tagged with green fluorescent protein in live Arabidopsis thaliana plants
Kato, Naohiro; Lam, Eric
plants from the fifth-generation progenies ...
... in Japanese patients. Patients with the  homozygous 
Pharmacogenetics of Warfarin Elimination and its Clinical Implications
Pharmacogenetics of Warfarin Elimination and its Clinical Implications
Takahashi, Harumi; Echizen, Hirotoshi
CYP2C9*3 genotype, as well as those with ...
... mice with disrupted PTHrP alleles. Ribs of  homozygous 
Biosynthesis of proteoglycan in bone and cartilage of parathyroid hormone-related protein knockout mice
Biosynthesis of proteoglycan in bone and cartilage of parathyroid hormone-related protein knockout mice
Ogihara, Yuji; Suda, Naoto; Hammond, Vicki E.; Senior, Paul V.; Beck, Felix; Yanagishita, Masaki
PTHrP-knockout mice and wild-type ...
... properties have been analyzed with 18  homozygous 
Stability of transgene expression, field performance and recombination breeding of transformed barley lines
Stability of transgene expression, field performance and recombination breeding of transformed barley lines
Horvath, H.; Jensen, L. G.; Wong, O. T.; Kohl, E.; Ullrich, S. E.; Cochran, J.; Kannangara, C. G.; von Wettstein, D.
transgenic barley lines of the cultivar ...
... Indiana Amish, in whom it is caused by a  homozygous 
Mutation Detection in β- and γ-Sarcoglycan (LGMD2E and LGMD2C)
Mutation Detection in β- and γ-Sarcoglycan (LGMD2E and LGMD2C)
Bönnemann, Carsten G.; Kunkel, Louis M.
missense mutation (Thr151Arg) (12). ...
... be combined. However, especially when the  homozygous 
Production and Use of Chimeric Mice
Production and Use of Chimeric Mice
Takaya, Junji; Matsusaka, Taiji; Ichikawa, Iekuni
mutant mice are lethal or not ...
...  Homozygous 
PMCA2 mutation causes structural changes in the auditory system in deafwaddler mice
PMCA2 mutation causes structural changes in the auditory system in deafwaddler mice
Dodson, H.C.; Charalabapoulou, M.
deafwaddler mice (dfw/dfw) have a mutation ...
... P2 (1 uM each). When the genomic DNA was  homozygous 
High-throughput genotyping of single nucleotide polymorphisms with rolling circle amplification
High-throughput genotyping of single nucleotide polymorphisms with rolling circle amplification
Faruqi, A Fawad; Hosono, Seiyu; Driscoll, Mark D; Dean, Frank B; Alsmadi, Osama; Bandaru, Rajanikanta; Kumar, Gyanendra; Grimwade, Brian; Zong, Qiuling; Sun, Zhenyu; Du, Yuefen; Kingsmore, Stephen; Knott, Tim; Lasken, Roger S
for the G allele (Fig. 5a, top panel) a ...
... polymorphisms can be assigned for patients  homozygous 
Determination of Human β2-Adrenoceptor Haplotypes by Denaturation Selective Amplification and Subtractive Genotyping
Determination of Human β2-Adrenoceptor Haplotypes by Denaturation Selective Amplification and Subtractive Genotyping
Wang, Jianwei; Mougey, Edward B.; David, Charles J.; Humma, Larisa M.; Johnson, Julie A.; Lima, John J.; Sylvester, James E.
at two or three of the polymorphic sites. ...
... with normal DNA may be an indication of a  homozygous 
PCR Microsatellite Analysis of LOH in Ovarian Tumors
PCR Microsatellite Analysis of LOH in Ovarian Tumors
Devlin, Jayne; Knowles, Margaret A.
deletion in tumor DNA. ...
... Wild-type, heterozygous cftr (+/-) and  homozygous 
Ileal mucosal bile acid absorption is increased in Cftr knockout mice
Ileal mucosal bile acid absorption is increased in Cftr knockout mice
Stelzner, Matthias; Somasundaram, Sivagurunathan; Lee, Sum P; Kuver, Rahul
cftr (-/-) mice were studied. ...
... 85% of unrelated HH patients are  homozygous 
Molecular Diagnosis of Hereditary Hemochromatosis
Molecular Diagnosis of Hereditary Hemochromatosis
Huber, Suzanne; Voelkerding, Karl V.
for a point mutation involving a G to A ...
... crossing of mice that are heterozygous or  homozygous 
Overview
Overview
Hertzog, Paul J.; Kola, Ismail
for specific gene mutations provides ...
... but <1% in Caucasians. Patients who are  homozygous 
Pharmacogenetics
Pharmacogenetics
Ensom, Mary H. H.; Chang, Thomas K. H.; Patel, Payal
for these ‘null’ alleles of CYP2C19 are ...
... that abolishes enzymatic activity in  homozygous 
Genotyping for Functionally Important Human CYP2D6*4 (B) Mutation Using TaqMan Probes
Genotyping for Functionally Important Human CYP2D6*4 (B) Mutation Using TaqMan Probes
Shi, Michael M.; Myrand, Scott P.; Bleavins, Michael R.; Iglesia, Felix A.
mutants (3). ...
... markedly diminished by cells from Q188R  homozygous 
Oxidation of galactose by galactose-1-phosphate uridyltransferase-deficient lymphoblasts
Oxidation of galactose by galactose-1-phosphate uridyltransferase-deficient lymphoblasts
Yager, C.; Gibson, J.; States, B.; Elsas, L. J.; Segal, S.
galactosaemic patients but was not ...