Molecular and Structural Analysis of Two Novel STAR Mutations in Patients with Lipoid Congenital Adrenal Hyperplasia

By Achermann J.C.   Meeks J.J.   Jeffs B.   Das U.   Clayton P.E.   Brook C.G.D.   Jameson J.L.  

Molecular Genetics and Metabolism, Vol. 73, Iss. 4, 2001-08 ,pp. : 354-357

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Commentary: Congenital Transcobalamin II Deficiency Due to Errors in RNA Editing (by Qian et al.)

By Lee P.  

Blood Cells, Molecules, and Diseases, Vol. 28, Iss. 2, 2002-02 ,pp. : 143-144

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Adrenal hypoplasia congenita with multiple pituitary hormone deficiency without documented mutation in DAX1 or SF1 gene

By Shalitin S.   Josefsberg Z.   Vilain E.   Shomrat R.   Weintrob N.  

Molecular Genetics and Metabolism, Vol. 76, Iss. 2, 2002-06 ,pp. : 157-161

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Molecular and Structural Analysis of Two Novel Mutations in a Patient with Mut^- Methylmalonyl-CoA Deficiency

By Benoist J-F.   Acquaviva C.   Callebaut I.   Guffon N.   Ogier de Baulny H.   Mornon J-P.   Porquet D.   Elion J.  

Molecular Genetics and Metabolism, Vol. 72, Iss. 2, 2001-02 ,pp. : 181-184

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Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene

By Guimaraes C.P.   Lemos M.   Sa´-Miranda C.   Azevedo J.E.  

Molecular Genetics and Metabolism, Vol. 76, Iss. 1, 2002-05 ,pp. : 62-67

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