PMC Links for Nucleotide (Select 1519315167) - PMC

Select item 50169531.

Genetic causes of Parkinson’s disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR

Charmaine Zahra, Christine Tabone, Graziella Camilleri, Alex E. Felice, Rosienne Farrugia, Stephanie Bezzina Wettinger

BMC Med Genet. 2016; 17(1): 65. Published online 2016 Sep 9. doi: 10.1186/s12881-016-0327-x

PMCID:: PMC5016953

Abstract Article PDF–380K

Select item 32435432.

Junctophilin 1 and 2 Proteins Interact with the L-type Ca²⁺ Channel Dihydropyridine Receptors (DHPRs) in Skeletal Muscle

Lucia Golini, Christophe Chouabe, Christine Berthier, Vincenza Cusimano, Mara Fornaro, Robert Bonvallet, Luca Formoso, Emiliana Giacomello, Vincent Jacquemond, Vincenzo Sorrentino

J Biol Chem. 2011 Dec 23; 286(51): 43717–43725. Published online 2011 Oct 21. doi: 10.1074/jbc.M111.292755

PMCID:: PMC3243543

Abstract Article PDF–1.4M

Select item 16837333.

Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency.

D W Howells, S M Forrest, H H Dahl, R G Cotton

Am J Hum Genet. 1990 Aug; 47(2): 279–285.

PMCID:: PMC1683733

Summary Page Browse PDF–1.3M

Select item 3406084.

Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.

H H Dahl, W Hutchison, W McAdam, S Wake, F J Morgan, R G Cotton

Nucleic Acids Res. 1987 Mar 11; 15(5): 1921–1932. doi: 10.1093/nar/15.5.1921

PMCID:: PMC340608

Summary Page Browse PDF–1.3M

Select item 3048635.

Structure and expression of human dihydropteridine reductase.

J Lockyer, R G Cook, S Milstien, S Kaufman, S L Woo, F D Ledley

Proc Natl Acad Sci U S A. 1987 May; 84(10): 3329–3333. doi: 10.1073/pnas.84.10.3329

PMCID:: PMC304863

Summary Page Browse PDF–983K

Select item 44709496.

Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent Mutations

Hannaneh Foroozani, Maryam Abiri, Shadab Salehpour, Hamideh Bagherian, Zohreh Sharifi, Mohammad Reza Alaei, Shohreh Khatami, Sara Azadmeh, Aria Setoodeh, Leyli Rejali, Farzaneh Rohani, Sirous Zeinali

JIMD Rep. 2015; 21: 123–128. Published online 2015 May 26. doi: 10.1007/8904_2015_441

PMCID:: PMC4470949

Abstract Article PDF–136K

Select item 39539037.

Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing

Daniel Trujillano, Belén Perez, Justo González, Cristian Tornador, Rosa Navarrete, Georgia Escaramis, Stephan Ossowski, Lluís Armengol, Verónica Cornejo, Lourdes R Desviat, Magdalena Ugarte, Xavier Estivill

Eur J Hum Genet. 2014 Apr; 22(4): 528–534. Published online 2013 Aug 14. doi: 10.1038/ejhg.2013.175

PMCID:: PMC3953903

Abstract Article PDF–550K

Select item 22871648.

Rarity of Somatic Mutation and Frequency of Normal Sequence Variation Detected in Sporadic Colon Adenocarcinoma Using High-Throughput cDNA Sequencing

Takatsugu Kan, Bogdan C. Paun, Yuriko Mori, Fumiaki Sato, Zhe Jin, James P. Hamilton, Tetsuo Ito, Yulan Cheng, Stefan David, Alexandru V. Olaru, Jian Yang, Rachana Agarwal, John M. Abraham, Stephen J. Meltzer

Bioinform Biol Insights. 2007; 1: 1–16. Published online 2009 Nov 24.

PMCID:: PMC2287164

Abstract Article PDF–705K

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