Single nucleotide polymorphisms in exons of the apo(a) kringles IV types 6 to 10 domain affect Lp(a) plasma concentrations and have different patterns in Africans and Caucasians

By Ogorelkova M.  

Human Molecular Genetics, Vol. 10, Iss. 8, 2001-04 ,pp. : 815-824

Oxford University Press

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A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency

By Kjaergaard S.  

Human Molecular Genetics, Vol. 11, Iss. 5, 2002-03 ,pp. : 599-604

Oxford University Press

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Significant impact of the +93 C/T polymorphism in the apolipoprotein(a) gene on Lp(a) concentrations in Africans but not in Caucasians: confounding effect of linkage disequilibrium

By Kraft H-G.   Windegger M.   Menzel H.J.   Utermann G.  

Human Molecular Genetics, Vol. 7, Iss. 2, 1998-02 ,pp. : 257-264

Oxford University Press

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Mutation Analysis in Patients with Congenital Adrenal Hyperplasia in the Spanish Population: Identification of Putative Novel Steroid 21-Hydroxylase Deficiency Alleles Associated with the Classic Form of the Disease

By  

Human Heredity, Vol. 49, Iss. 3, 1999-05 ,pp. : 169-175

Karger

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Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies

By Shevchenko Yuriy O.   Compton John G.   Toro Jorge R.   DiGiovanna John J.   Bale Sherri J.  

Human Genetics, Vol. 106, Iss. 5, 2000-05 ,pp. : 492-499

Springer Publishing Company

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