Volume 79; Issue 1

Molecular Genetics and Metabolism

Volume 79; Issue 1

1

Molecular characterization of phenylketonuria in South Brazil

Luiz Carlos Santana da Silva, Tiago Santos Carvalho, Fernanda Britto da Silva, Liana Morari, Ângela Aguirres Fachel, Ricardo Pires, Lı́lia Farret Refosco, Robert J. Desnick, Roberto Giugliani, Maria L

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 176 KB

english, 2003

2

Systematic search for single nucleotide polymorphisms in the 5′ flanking region of the human phosphodiesterase 3B gene: absence of evidence for major effects of identified polymorphisms on susceptibility to Japanese type 2 diabetes

Haruhiko Osawa, Toshiyuki Niiya, Hiroshi Onuma, Akiko Murakami, Masaaki Ochi, Tatsuya Nishimiya, Takahiro Ogura, Kenichi Kato, Ikki Shimizu, Yasuhisa Fujii, Jun Ohashi, Kazuya Yamada, Shu-Jian Liang,

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 175 KB

english, 2003

3

Expression of human factor VIII under control of the platelet-specific αIIb promoter in megakaryocytic cell line as well as storage together with VWF

Q Shi, D.A Wilcox, S.A Fahs, P.A Kroner, R.R Montgomery

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 261 KB

english, 2003

4

“Loss of function” mutations in the cationic trypsinogen gene (PRSS1) may act as a protective factor against pancreatitis

Jian-Min Chen, Cedric Le Maréchal, Danièle Lucas, Odile Raguénès, Claude Férec

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 148 KB

english, 2003

5

Association of a F479L variant in the cytosolic phospholipase A2 gene (PLA2G4A) with decreased glucose turnover and oxidation rates in Pima Indians

Johanna K Wolford, Yasmine L Konheim, Peter B Colligan, Clifton Bogardus

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 124 KB

english, 2003

6

mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency

Ann Saada, Avraham Shaag, Orly Elpeleg

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 110 KB

english, 2003

7

Analysis of clones from a human cartilage cDNA library provides insight into chondrocyte gene expression and identifies novel candidate genes for the osteochondrodysplasias

Deborah Krakow, Eiman T Sebald, Robert Pogue, Lauren P Rimoin, Lily King, Daniel H Cohn

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 182 KB

english, 2003

8

Impact of the Pro12Ala polymorphism of the PPAR-γ2 gene on serum triacylglycerol response to n−3 fatty acid supplementation

Virpi Lindi, Ursula Schwab, Anne Louheranta, Markku Laakso, Bengt Vessby, Kjeld Hermansen, Len Storlien, Gabriele Riccardi, Angela A. Rivellese

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 163 KB

english, 2003

9

Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap

S Harvey Mudd, Nancy Braverman, Martin Pomper, Kamer Tezcan, Jonathan Kronick, Parul Jayakar, Cheryl Garganta, Mary G Ampola, Harvey L Levy, Shawn E McCandless, Hobart Wiltse, Sally P Stabler, Robert

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 300 KB

english, 2003

10

IFC - Ed. Board

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 289 KB

english, 2003

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