Identification of Mutations in Two Major mRNA Isoforms of the Chediak-Higashi Syndrome Gene in Human and Mouse

By Barbosa Maria D. F. S.  

Human Molecular Genetics, Vol. 6, Iss. 7, 1997-07 ,pp. : 1091-1098

Oxford University Press

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Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes

By Clavero Sonia   Pérez Belén   Rincón Ana   Ugarte Magdalena   Desviat Lourdes  

Human Genetics, Vol. 115, Iss. 3, 2004-08 ,pp. : 239-247

Springer Publishing Company

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Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1

By Ars Elisabet   Serra Eduard   García Judit   Kruyer Helena   Gaona Antonia   Lázaro Conxi   Estivill Xavier  

Human Molecular Genetics, Vol. 9, Iss. 2, 2000-01 ,pp. : 237-247

Oxford University Press

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Reduced KIAA0471 mRNA expression in Alzheimer's patients: a new candidate gene product linked to the disease?

By de Yebra Lluïsa  

Human Molecular Genetics, Vol. 13, Iss. 21, 2004-11 ,pp. : 2607-2612

Oxford University Press

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Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk

By Khan Sikandar G.  

Human Molecular Genetics, Vol. 13, Iss. 3, 2004-02 ,pp. : 343-352

Oxford University Press

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