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

By Chen J-M.   Ferec C.  

Molecular Genetics and Metabolism, Vol. 71, Iss. 3, 2000-11 ,pp. : 463-469

Academic Press

Access to resources Recommend Favorite

Apparent Galactose Appearance Rate in Human Galactosemia Based on Plasma [¹³C]Galactose Isotopic Enrichment

By Ning C.   Fenn P.T.   Blair I.A.   Berry G.T.   Segal S.  

Molecular Genetics and Metabolism, Vol. 70, Iss. 4, 2000-08 ,pp. : 261-271

Academic Press

Access to resources Recommend Favorite

Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis

By Hellerud C.   Adamowicz M.   Jurkiewicz D.   Taybert J.   Kubalska J.   Ciara E.   Popowska E.   Ellis J.R.   Lindstedt S.   Pronicka E.  

Molecular Genetics and Metabolism, Vol. 79, Iss. 3, 2003-07 ,pp. : 149-159

Elsevier

Access to resources Recommend Favorite

Metabolism of ¹³C galactose by lymphoblasts from patients with galactosemia determined by NMR spectroscopy

By Wehrli S.L.   Reynolds R.   Chen J.   Yager C.   Segal S.  

Molecular Genetics and Metabolism, Vol. 77, Iss. 4, 2002-12 ,pp. : 296-303

Academic Press

Access to resources Recommend Favorite

Functional Analysis of the Human Galactose-1-Phosphate Uridyltransferase Promoter in Duarte and LA Variant Galactosemia

By Elsas L.J.   Lai K.   Saunders C.J.   Langley S.D.  

Molecular Genetics and Metabolism, Vol. 72, Iss. 4, 2001-04 ,pp. : 297-305

Academic Press

Access to resources Recommend Favorite