Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease

By Strauss Karsten M.  

Human Molecular Genetics, Vol. 14, Iss. 15, 2005-08 ,pp. : 2099-2111

Oxford University Press

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Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein

By Schwahn U.   Paland N.   Techritz S.   Lenzner S.   Berger W.  

Human Molecular Genetics, Vol. 10, Iss. 11, 2001-05 ,pp. : 1177-1183

Oxford University Press

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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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Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations ( CCM1 )

By Sahoo Trilochan   Johnson Eric W.  

Human Molecular Genetics, Vol. 8, Iss. 12, 1999-11 ,pp. : 2325-2333

Oxford University Press

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Identification of Three Different Truncating Mutations in Cytochrome P4501B1 ( CYP1B1 ) as the Principal Cause of Primary Congenital Glaucoma (Buphthalmos) in Families Linked to the GLC3A Locus on Chromosome 2p21

By Stoilov Ivaylo   Akarsu A. Nurten   Sarfarazi Mansoor  

Human Molecular Genetics, Vol. 6, Iss. 4, 1997-01 ,pp. : 641-647

Oxford University Press

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