Volume 78; Issue 2

Molecular Genetics and Metabolism

Volume 78; Issue 2

1

In silico searching of human and mouse genome data identifies known and unknown HNF1 binding sites upstream of β-cell genes

Christopher R Lockwood, Coralie Bingham, Timothy M Frayling

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 125 KB

english, 2003

2

Expression pattern and biochemical characteristics of a major epidermal retinol dehydrogenase

Nedialka G Markova, A Pinkas-Sarafova, N Karaman-Jurukovska, V Jurukovski, M Simon

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 563 KB

english, 2003

3

Glutaric aciduria I: creatine supplementation restores creatinephosphate levels in mixed cortex cells from rat incubated with 3-hydroxyglutarate

A.M Das, T Lücke, K Ullrich

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 89 KB

english, 2003

4

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art

Leo J.M Spaapen, M Estela Rubio-Gozalbo

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 197 KB

english, 2003

5

A C-reactive protein promoter polymorphism is associated with type 2 diabetes mellitus in Pima Indians

Johanna K Wolford, Jonathan D Gruber, Victoria M Ossowski, Barbora Vozarova, P Antonio Tataranni, Clifton Bogardus, Robert L Hanson

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 143 KB

english, 2003

6

Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency

Steven F Dobrowolski, Janine Angeletti, Richard A Banas, Edwin W Naylor

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 158 KB

english, 2003

7

A novel point mutation (I137T) in the conserved 5-phosphoribosyl-1-pyrophosphate binding motif of hypoxanthine-guanine phosphoribosyltransferase (HPRTJerusalem) in a variant of Lesch–Nyhan syndrome

Esther Zoref-Shani, Yael Bromberg, Joel Hirsch, Sofia Feinstein, Yaacov Frishberg, Oded Sperling

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 171 KB

english, 2003

8

Clinical and molecular genetics of Carney complex

Fabiano Sandrini, Constantine Stratakis

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 491 KB

english, 2003

9

Characterization of fatty acid oxidation in human muscle mitochondria and myoblasts

Fatima Djouadi, Jean-Paul Bonnefont, Arnold Munnich, Jean Bastin

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 167 KB

english, 2003

10

New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis

Luı́sa Azevedo, Larisa Stolnaja, Evzenie Tietzeova, Martin Hrebicek, Eva Hruba, Laura Vilarinho, António Amorim, Lenka Dvorakova

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 101 KB

english, 2003

11

IFC - Ed. Board

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 302 KB

english, 2003

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