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index medicus (36) 36
humans (26) 26
albinism, oculocutaneous - genetics (15) 15
monophenol monooxygenase - genetics (15) 15
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female (12) 12
genetics & heredity (12) 12
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base sequence (11) 11
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albinism, oculocutaneous - enzymology (6) 6
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tyrosinase (5) 5
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albinism, oculocutaneous - classification (3) 3
carrier proteins - genetics (3) 3
cytochrome p-450 cyp3a - genetics (3) 3
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pigmentation (3) 3
pituitary gland, anterior - metabolism (3) 3
polymorphism, genetic (3) 3
polymorphism, single nucleotide (3) 3
prolactin - secretion (3) 3
sequences (3) 3
single base insertion (3) 3
tacrolimus (3) 3
tacrolimus - pharmacokinetics (3) 3
acute rejection (2) 2
albinism, oculocutaneous - metabolism (2) 2
albinism, oculocutaneous - pathology (2) 2
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asthma (2) 2
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european continental ancestry group - genetics (2) 2
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genetic linkage (2) 2
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Journal Article
American Journal of Transplantation, ISSN 1600-6135, 02/2017, Volume 17, Issue 2, pp. 318 - 319
Journal Article
Pharmacogenomics Journal, ISSN 1470-269X, 01/2017, Volume 17, Issue 1, pp. 61 - 68
Tacrolimus is dependent on CYP3A5 enzyme for metabolism. Expression of the CYP3A5 enzyme is controlled by several alleles including CYP3A5*1, CYP3A5*3,... 
BLOOD-CONCENTRATIONS | CYP3A5 GENOTYPE | GENETIC POLYMORPHISMS | POPULATION PHARMACOKINETICS | GENETICS & HEREDITY | PHARMACOLOGY & PHARMACY | CALCINEURIN INHIBITORS | DOSE REQUIREMENTS | CLINICAL PHARMACOKINETICS | DOSAGE REQUIREMENTS | SINGLE NUCLEOTIDE POLYMORPHISMS | P-GLYCOPROTEIN | United States - epidemiology | Calcineurin Inhibitors - pharmacokinetics | Humans | Immunosuppressive Agents - pharmacokinetics | Middle Aged | Male | Transplant Recipients | Young Adult | Drug Dosage Calculations | Canada - epidemiology | Cytochrome P-450 CYP3A - genetics | Pharmacogenomic Variants | Adult | Female | Immunosuppressive Agents - administration & dosage | Tacrolimus - administration & dosage | Pharmacogenetics | Calcineurin Inhibitors - administration & dosage | Gene Frequency | Graft Rejection - prevention & control | African Americans - genetics | Genotype | Treatment Outcome | Pharmacogenomic Testing | Tacrolimus - pharmacokinetics | Tacrolimus - adverse effects | Calcineurin Inhibitors - adverse effects | Phenotype | Metabolic Clearance Rate - genetics | Cytochrome P-450 CYP3A - metabolism | Graft Rejection - ethnology | Adolescent | Immunosuppressive Agents - adverse effects | Aged | Models, Genetic | Graft Rejection - immunology | Graft Survival - drug effects | Kidney Transplantation - adverse effects | Kidneys | Tacrolimus | Cytochrome P-450 | African Americans | Genetic aspects | Dosage and administration | Transplantation | Gene expression | Health aspects | Index Medicus | kidney transplant | pharmacokinetics | personalization | pharmacogenomics | tacrolimus
Journal Article
Pharmacogenomics Journal, ISSN 1470-269X, 05/2018, Volume 18, Issue 3, pp. 501 - 505
Journal Article
Journal Article
Genomics, ISSN 0888-7543, 1995, Volume 30, Issue 3, pp. 450 - 458
The use of short tandem repeat polymorphisms (STRPs) as marker loci for linkage analysis is becoming increasingly important due to their large numbers in the... 
POLYMERASE | AMPLIFICATION | DNA | CONSTRUCTION | GENETICS & HEREDITY | Repetitive Sequences, Nucleic Acid - genetics | Chromosome Mapping | DNA Primers | Infrared Rays | Fluorescent Dyes | Polymorphism, Genetic | Index Medicus
Journal Article
by Kaput, J and Cotton, R.G and Hardman, L and Watson, M and Aqeel, A.I. Al and Al-Aama, J.Y and Al-Mulla, F and Alonso, S and Aretz, S and Auerbach, A.D and Bapat, B and Bernstein, I.T and Bhak, J and Bleoo, S.L and Blocker, H and Brenner, S.E and Burn, J and Bustamante, M and Calzone, R and Cambon-Thomsen, A and Cargill, M and Carrera, P and Cavedon, L and Cho, Y.S and Chung, Y.J and Claustres, M and Cutting, G and Dalgleish, R and Dunnen, J.T. den and Diaz, C and Dobrowolski, S and Santos, M.R. dos and Ekong, R and Flanagan, S.B and Flicek, P and Furukawa, Y and Genuardi, M and Ghang, H and Golubenko, M.V and Greenblatt, M.S and Hamosh, A and Hancock, J.M and Hardison, R and Harrison, T.M and Hoffmann, R and Horaitis, R and Howard, H.J and Barash, C.I and Izagirre, N and Jung, J and Kojima, T and Laradi, S and Lee, Y.S and Lee, J.Y and Gil-da-Silva-Lopes, V.L and Macrae, F.A and Maglott, D and Marafie, M.J and Marsh, S.G and Matsubara, Y and Messiaen, L.M and Moslein, G and Netea, M.G and Norton, M.L and Oefner, P.J and Oetting, W.S and O'Leary, J.C and Ramirez, A.M. de and Paalman, M.H and Parboosingh, J and Patrinos, G.P and Perozzi, G and Phillips, I.R and Povey, S and Prasad, S and Qi, M and Quin, D.J and Ramesar, R.S and Richards, C.S and Savige, J and Scheible, D.G and Scott, R.J and Seminara, D and Shephard, E.A and Sijmons, R.H and Smith, T.D and Sobrido, M.J and Tanaka, T and Tavtigian, S.V and Taylor, G.R and Teague, J and Topel, T and Ullman-Cullere, M and Utsunomiya, J and Kranen, H.J. van and Vihinen, M and Webb, E and Weber, T.K and Yeager, M and Human Variome Project Planning and Contributors to the Human Variome Project Planning Meeting and on behalf of contributors to the Human Variome Project Planning Meeting
Human Mutation, ISSN 1059-7794, 2009, Volume 30, Issue 4, pp. 496 - 510
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 1996, Volume 58, Issue 6, pp. 1145 - 1156
Most types of human oculocutaneous albinism (OCA) result from mutations in the gene for tyrosinase (OCA1) or the P protein (OCA2), although other types of OCA... 
GENE | MAPS | MOUSE | GENETICS & HEREDITY | B-LOCUS | CDNA | SINGLE BASE INSERTION | IDENTIFICATION | MESSENGER-RNA LEVELS | PIGMENTATION | DOPACHROME TAUTOMERASE
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 02/2005, Volume 115, Issue 2, pp. S219 - S219
  Sequence analysis included the two coding exons, intron/exon boundaries and the 5' promoter region. 
Chromosomes | Genes | Genomics | Asthma
Journal Article
Human Mutation, ISSN 1059-7794, 01/1999, Volume 13, Issue 1, p. 83
  Patient 70, who was stated to have the mutation R77C, an arginine to cysteine amino acid substitution, was incorrectly reported. The mutation should have... 
Journal Article
Human Mutation, ISSN 1059-7794, 1999, Volume 13, Issue 1, pp. 83 - 83
Patient 70, who was stated to have the mutation R77C, an arginine to cysteine amino acid substitution, was incorrectly reported. The mutation should have been... 
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 02/2005, Volume 115, Issue 2, pp. S219 - S219
  The use of cluster analysis is a powerful technique for the identification of loci associated with complex genetic disorders such as asthma. 
Cluster analysis | Hypotheses | Genomics | Asthma
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 12/2000, Volume 21, Issue 4, pp. 227 - 233
Congenital motor nystagmus (CN) is a relatively common genetic disorder (approximately 1 in 1500) characterized by bilateral involuntary ocular oscillations,... 
Heterogeneity | X-linkage | Linkage | Congenital nystagmus
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 1995, Volume 57, Issue 4, pp. 755 - 765
Journal Article
Human Mutation, ISSN 1059-7794, 1998, Volume 12, Issue 6, pp. 433 - 434
Journal Article
Human mutation, ISSN 1059-7794, 1998, Volume 12, Issue 6, pp. 433 - 434
Mutations in the human tyrosinase gene produce tyrosinase-related oculocutaneous albinism (OCA1, MIM #203100). Tyrosinase is a copper containing enzyme and is... 
Monophenol Monooxygenase - genetics | Frameshift Mutation | Mutation, Missense | Albinism, Oculocutaneous - enzymology | Albinism, Oculocutaneous - genetics | Humans | Index Medicus
Journal Article
AMERICAN JOURNAL OF HUMAN GENETICS, ISSN 0002-9297, 10/2001, Volume 69, Issue 4, pp. 647 - 647
Conference Proceeding
AMERICAN JOURNAL OF HUMAN GENETICS, ISSN 0002-9297, 10/2001, Volume 69, Issue 4, pp. 608 - 608
Conference Proceeding
AMERICAN JOURNAL OF HUMAN GENETICS, ISSN 0002-9297, 10/2000, Volume 67, Issue 4, pp. 312 - 312
Conference Proceeding
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