Volume 71; Issue 3

Molecular Genetics and Metabolism

Volume 71; Issue 3

1

A Multicenter Study of Women with Nonclassical Congenital Adrenal Hyperplasia: Relationship between Genotype and Phenotype

Phyllis W. Speiser, Eric S. Knochenhauer, Didier Dewailly, Franca Fruzzetti, Jose A.M. Marcondes, Ricardo Azziz

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 63 KB

english, 2000

2

Betaine-Homocysteine Methyltransferase (BHMT): Genomic Sequencing and Relevance to Hyperhomocysteinemia and Vascular Disease in Humans

Sandra G. Heil, Karin J.A. Lievers, Godfried H. Boers, Petra Verhoef, Martin den Heijer, Frans J.M. Trijbels, Henk J. Blom

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 175 KB

english, 2000

3

Genetic Basis of Hyperhomocysteinemia

Miguel Ángel Medina, Marı&amp, #x0301, a Isabel Amores-Sánchez

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 37 KB

english, 2000

4

Molecular Mechanisms of SOX9 Action

Owen J. Marshall, Vincent R. Harley

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 228 KB

english, 2000

5

Mutation Analysis of the GCDH Gene in Italian and Portuguese Patients with Glutaric Aciduria Type I

Christiane Busquets, Mercedes Soriano, Isabel Tavares de Almeida, Barbara Garavaglia, Marco Rimoldi, Isabel Rivera, Graziella Uziel, Aguinaldo Cabral, M.Josep Coll, Antonia Ribes

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 33 KB

english, 2000

6

The Pathophysiology of Mitochondrial Biogenesis: Towards Four Decades of Mitochondrial DNA Research

Miguel Angel Fernández-Moreno, Belén Bornstein, Nathalie Petit, Rafael Garesse

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 376 KB

english, 2000

7

Genomic Organization, Expression, and Alternate Splicing of the Mouse Fatty Aldehyde Dehydrogenase Gene

Zhili Lin, Gael Carney, William B. Rizzo

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 220 KB

english, 2000

8

Mutations in the 4-Hydroxyphenylpyruvic Acid Dioxygenase Gene Are Responsible for Tyrosinemia Type III and Hawkinsinuria

Kaede Tomoeda, Hisataka Awata, Toshinobu Matsuura, Ichiro Matsuda, Engelbert Ploechl, Tom Milovac, Avihu Boneh, C.Ronald Scott, David M. Danks, Fumio Endo

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 87 KB

english, 2000

9

Gene Conversion-like Missense Mutations in the Human Cationic Trypsinogen Gene and Insights into the Molecular Evolution of the Human Trypsinogen Family

Jian-Min Chen, Claude Ferec

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 95 KB

english, 2000

10

Cystic Fibrosis Revisited

Janet E. Larson, J.Craig Cohen

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 212 KB

english, 2000

11

A Novel Mutation (M310L) in the Thyroid Hormone Receptor β Causing Resistance to Thyroid Hormone in a Brazilian Kindred and a Neonate

Tania Weber Furlanetto, Peter Kopp, Simone Peccin, Wen-Xia Gu, J.Larry Jameson

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 150 KB

english, 2000

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