Molecular genetics and metabolism

Label

• Molecular genetics and metabolism (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study. (Articolo in rivista) (Prodotto della ricerca)
• Structural and phylogenetic approaches to assess the significance of human Apolipoprotein E variation. (Articolo in rivista) (Prodotto della ricerca)
• A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): A clinical, molecular, and functional study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA) (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)

Alternative label

• Molecular genetics and metabolism. (literal)
• Mol. genet. metab. (literal)

Language

• eng (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#issn

• 1096-7192 (literal)

Preferred label

• Molecular genetics and metabolism (literal)

Publisher

• Elsevier San Diego, CA : USA (literal)

Incoming links:

Rivista

• Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA) (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Structural and phylogenetic approaches to assess the significance of human Apolipoprotein E variation. (Articolo in rivista) (Prodotto della ricerca)
• A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): A clinical, molecular, and functional study. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)
• Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study. (Articolo in rivista) (Prodotto della ricerca)
• Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations. (Articolo in rivista) (http://www.cnr.it/ontology/cnr/individuo/prodotto/TIPO1101)