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Triplet Repeat Mutations in Human Disease
Triplet Repeat Mutations in Human Disease
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Triplet Repeat Mutations in Human Disease

Caskey, C. Thomas ; Pizzuti, Antonio ; Fu, Ying-Hui ; Fenwick, Raymond G. ; Nelson, David L.

Science (American Association for the Advancement of Science), 1992-05, Vol.256 (5058), p.784-789 [Periódico revisado por pares]

WASHINGTON: American Society for the Advancement of Science

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12
Identification and Localization of Mutations at the Lesch-Nyhan Locus by Ribonuclease A Cleavage
Identification and Localization of Mutations at the Lesch-Nyhan Locus by Ribonuclease A Cleavage
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Identification and Localization of Mutations at the Lesch-Nyhan Locus by Ribonuclease A Cleavage

Gibbs, Richard A. ; Caskey, C. Thomas

Science (American Association for the Advancement of Science), 1987-04, Vol.236 (4799), p.303-305 [Periódico revisado por pares]

Washington, DC: The American Association for the Advancement of Science

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13
Decreased Expression of Myotonin-Protein Kinase Messenger RNA and Protein in Adult Form of Myotonic Dystrophy
Decreased Expression of Myotonin-Protein Kinase Messenger RNA and Protein in Adult Form of Myotonic Dystrophy
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Decreased Expression of Myotonin-Protein Kinase Messenger RNA and Protein in Adult Form of Myotonic Dystrophy

Fu, Ying-Hui ; Friedman, David L. ; Richards, Stephen ; Pearlman, Joel A. ; Gibbs, Richard A. ; Pizzuti, Antonio ; Ashizawa, Tetsuo ; Perryman, M. Benjamin ; Scarlato, Guglielmo ; Fenwick, Raymond G. ; Caskey, C. Thomas

Science (American Association for the Advancement of Science), 1993-04, Vol.260 (5105), p.235-238 [Periódico revisado por pares]

Washington, DC: American Society for the Advancement of Science

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14
Characterization of Dystrophin in Muscle-Biopsy Specimens from Patients with Duchenne's or Becker's Muscular Dystrophy
Characterization of Dystrophin in Muscle-Biopsy Specimens from Patients with Duchenne's or Becker's Muscular Dystrophy
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Characterization of Dystrophin in Muscle-Biopsy Specimens from Patients with Duchenne's or Becker's Muscular Dystrophy

Hoffman, Eric P ; Fischbeck, Kenneth H ; Brown, Robert H ; Johnson, Margaret ; Medori, Rosella ; Loire, John D ; Harris, John B ; Waterston, Robert ; Brooke, Michael ; Specht, Linda ; Kupsky, William ; Chamberlain, Jeffrey ; Caskey, C. Thomas ; Shapiro, Frederic ; Kunkel, Louis M

The New England journal of medicine, 1988-05, Vol.318 (21), p.1363-1368 [Periódico revisado por pares]

Boston, MA: Massachusetts Medical Society

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15
The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients
The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients
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The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients

Zhao, Zhaoyang ; Lee, Chang-Chi ; Jiralerspong, Sarn ; Juyal, Ramesh C. ; Lu, Fei ; Baldini, Antonio ; Greenberg, Frank ; Caskey, C. Thomas ; Patel, Pragna I.

Human molecular genetics, 1995-04, Vol.4 (4), p.589-597 [Periódico revisado por pares]

Oxford: Oxford University Press

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16
The Human as an Experimental System in Molecular Genetics
The Human as an Experimental System in Molecular Genetics
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The Human as an Experimental System in Molecular Genetics

White, Ray ; Caskey, C. Thomas

Science (American Association for the Advancement of Science), 1988-06, Vol.240 (4858), p.1483-1488 [Periódico revisado por pares]

Washington, DC: The American Association for the Advancement of Science

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17
Identification of the gene responsible for Best macular dystrophy
Identification of the gene responsible for Best macular dystrophy
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Identification of the gene responsible for Best macular dystrophy

Petrukhin, Konstantin ; Wadelius, Claes ; Koisti, Markus J ; Bakall, Benjamin ; Li, Wen ; Xie, Guochun ; Marknell, Towa ; Sandgren, Ola ; Forsman, Kristina ; Holmgren, Gösta ; Andreasson, Sten ; Vujic, Mihailo ; Bergen, Arthur A. B ; McGarty-Dugan, Valarie ; Figueroa, David ; Austin, Christopher P ; Metzker, Michael L ; Caskey, C.Thomas

Nature genetics, 1998-07, Vol.19 (3), p.241-247 [Periódico revisado por pares]

London: Nature Publishing Group

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18
Detection of single DNA base differences by competitive oligonucleotide priming
Detection of single DNA base differences by competitive oligonucleotide priming
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Detection of single DNA base differences by competitive oligonucleotide priming

GIBBS, R. A ; PHI-NGA NGUYEN ; CASKEY, C. T

Nucleic acids research, 1989-04, Vol.17 (7), p.2437-2448 [Periódico revisado por pares]

Oxford: Oxford University Press

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19
Expression of peptide chain release factor 2 requires high-efficiency frameshift
Expression of peptide chain release factor 2 requires high-efficiency frameshift
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Expression of peptide chain release factor 2 requires high-efficiency frameshift

Craigen, William J ; Caskey, C. Thomas

Nature (London), 1986-07, Vol.322 (6076), p.273-275 [Periódico revisado por pares]

London: Nature Publishing

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20
Presymptomatic Diagnosis: A First Step Toward Genetic Health Care
Presymptomatic Diagnosis: A First Step Toward Genetic Health Care
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Presymptomatic Diagnosis: A First Step Toward Genetic Health Care

Caskey, C. Thomas

Science (American Association for the Advancement of Science), 1993-10, Vol.262 (5130), p.48-49 [Periódico revisado por pares]

Washington, DC: American Society for the Advancement of Science

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