Papers

With Tag: Mutation

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Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art

Molecular Genetics and Metabolism | 2003 | 10.1016/S1096-7192(02)00229-9

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Maternal glutaric acidemia, type I identified by newborn screening

Molecular Genetics and Metabolism | 2008 | 10.1016/j.ymgme.2008.01.005

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The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1

Molecular Genetics and Metabolism | 2004 | 10.1016/j.ymgme.2004.02.001

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Two distinct truncated variants of ankyrin associated with hereditary spherocytosis

American Journal of Hematology | 1998 | 10.1002/(SICI)1096-8652(199805)58:1

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Quiz Case 1

Archives of Otolaryngology-head & Neck Surgery | 2001 | 10.1001/archotol.127.5.594

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Trinucleotide Repeat Expansion and Neuropsychiatric Disease

Archives of General Psychiatry | 1999 | 10.1001/archpsyc.56.11.1019

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The Role of Complex Formation and Deleterious Mutations for the Stability of RNA-Like Replicator Systems

Journal of Molecular Evolution | 2007 | 10.1007/s00239-007-9044-6

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Relative rates of nucleotide substitution in frogs.

Journal of Molecular Evolution | 2003 | 10.1007/s00239-003-2513-7

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Microsatellite Evolution in the Mitochondrial Genome of Bechstein’s Bat (Myotis bechsteinii)

Journal of Molecular Evolution | 2005 | 10.1007/s00239-005-0040-4

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Proteum/AJ: a mutation system for AspectJ programs

Jose Carlos Maldonado, Elisa Yumi Nakagawa, Awais Rashid, Fabiano Cutigi Ferrari
2011 | 10.1145/1960314.1960340

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Hypomethylation of ras oncogenes in chemically induced and spontaneous b6c3f1 mouse liver tumors

Journal of Toxicology and Environmental Health | 2009

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Up with the lark: a panoptic view of Parkinson disease.

Neurology | 2011

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THE EFFECTS OF DELETIONS, POINT MUTATIONS, REVERSIONS AND SUPPRESSOR MUTATIONS ON THE TWO COMPONENTS OF THE TRYPTOPHAN SYNTHETASE OF ESCHERICHIA COLI.

I P Crawford, Charles Yanofsky
Proceedings of the National Academy of Sciences of the United States of America | 1959 | 10.1073/pnas.45.7.1016

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Targeted replacement of the mycocerosic acid synthase gene in Mycobacterium bovis BCG produces a mutant that lacks mycosides

Abul K Azad, Pappachan E Kolattukudy, Tatiana D Sirakova, L Rogers
Proceedings of the National Academy of Sciences of the United States of America | 1996 | 10.1073/pnas.93.10.4787

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Cytoplasmic ankyrin repeats of transient receptor potential A1 (TRPA1) dictate sensitivity to thermal and chemical stimuli

Julio F Corderomorales, David Julius, Elena O Gracheva
Proceedings of the National Academy of Sciences of the United States of America | 2011 | 10.1073/pnas.1114124108

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Transkingdom signaling based on bacterial cyclodipeptides with auxin activity in plants

Jose Lopezbucio, Randy Ortizcastro, Cesar Diazperez, M Martineztrujillo, Rosa E Del Rio, Jesus Camposgarcia
Proceedings of the National Academy of Sciences of the United States of America | 2011 | 10.1073/pnas.1006740108

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Crystal cataracts: Human genetic cataract caused by protein crystallization

Olutayo Ogun, Aleksey Lomakin, Jayanti Pande, Ajay Pande, Jonathan King, George B Benedek, Neer Asherie
Proceedings of the National Academy of Sciences of the United States of America | 2001 | 10.1073/pnas.101124798

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Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations.

Neurology | 2013 | 10.1212/01.wnl.0000437308.22603.43

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Sequences in the (A)gamma-delta intergenic region are not required for stage-specific regulation of the human beta-globin gene locus.

K M Gaensler, Chinteng Lin, Shunfa Yang, Karin Hardt, Zhiming Zhang, Linda Flebberehwaldt
Proceedings of the National Academy of Sciences of the United States of America | 2003 | 10.1073/pnas.0634132100

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