Familial hypercholesterolemia in St. Petersburg: Diversity of mutations argues against a strong founder effect

By Zakharova F.   Tatishcheva Yu.   Golubkov V.   Lipovetsky B.   Konstantinov V.   Denisenko A.   Faergeman O.   Vasilyev V.   Mandelshtam M.  

Russian Journal of Genetics, Vol. 43, Iss. 9, 2007-09 ,pp. : 1046-1052

MAIK Nauka/Interperiodica

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How Disturbing Is It to Be Approached for a Genetic Cascade Screening Programme for Familial Hypercholesterolaemia?

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Public Health Genomics, Vol. 4, Iss. 4, 2002-06 ,pp. : 244-252

Karger

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Founder Effect in Spinal and Bulbar Muscular Atrophy (SBMA)

By Tanaka Fumiaki   Doyu Manabu   Ito Yasuhiro   Matsumoto Michiyo   Mitsuma Terunori   Abe Koji   Aoki Masashi   Itoyama Yasuto   Fischbeck Kenneth H.   Sobue Gen  

Human Molecular Genetics, Vol. 5, Iss. 9, 1996-01 ,pp. : 1253-1257

Oxford University Press

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Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF)

By Cattan D.  

Human Molecular Genetics, Vol. 7, Iss. 8, 1998-08 ,pp. : 1317-1325

Oxford University Press

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Mutation –59c → t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolaemia

By Scholtz Charlotte L.  

Human Molecular Genetics, Vol. 8, Iss. 11, 1999-10 ,pp. : 2025-2030

Oxford University Press

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