Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence

By Cideciyan Artur V.  

Human Molecular Genetics, Vol. 13, Iss. 5, 2004-03 ,pp. : 525-534

Oxford University Press

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Germline hepatocyte nuclear factor 1α and 1 mutations in renal cell carcinomas

By Rebouissou Sandra  

Human Molecular Genetics, Vol. 14, Iss. 5, 2005-03 ,pp. : 603-614

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Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy

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Human Molecular Genetics, Vol. 14, Iss. 21, 2005-11 ,pp. : 3161-3168

Oxford University Press

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Treacher Collins Syndrome may Result from Insertions, Deletions or Splicing Mutations, Which Introduce a Termination Codon into the Gene

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Human Molecular Genetics, Vol. 5, Iss. 10, 1996-10 ,pp. : 1533-1538

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Contrasting effects on HIF-1α regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease

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Human Molecular Genetics, Vol. 10, Iss. 10, 2001-05 ,pp. : 1029-1038

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