Mutations in a novel gene, VMD2 , encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)

By Passmore L.A.   Krämer F.   Rivera A.   Weber B.H.F.   Marquardt A.   Stöhr H.  

Human Molecular Genetics, Vol. 7, Iss. 9, 1998-09 ,pp. : 1517-1525

Oxford University Press

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Screening for Mutations in the Promoter and the Coding Region of the IGFBP1 and IGFBP3 Genes in Silver-Russell Syndrome Patients

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Human Heredity, Vol. 49, Iss. 3, 1999-05 ,pp. : 123-128

Karger

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Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration

By Spencer Kylee L.   Hauser Michael A.   Olson Lana M.   Schmidt Silke   Scott William K.   Gallins Paul   Agarwal Anita   Postel Eric A.   Pericak-Vance Margaret A.   Haines Jonathan L.  

Human Molecular Genetics, Vol. 17, Iss. 7, 2008-04 ,pp. : 971-977

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Comparative analysis of the phosphomannomutase genes PMM1 , PMM2 and PMM2 : the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene

By Schollen E.  

Human Molecular Genetics, Vol. 7, Iss. 2, 1998-02 ,pp. : 157-164

Oxford University Press

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Heterozygous mutations in BBS1 , BBS2 and BBS6 have a potential epistatic effect on Bardet–Biedl patients with two mutations at a second BBS locus

By Katsanis N.  

Human Molecular Genetics, Vol. 12, Iss. 14, 2003-07 ,pp. : 1651-1659

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