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Molecular Genetics and Metabolism, Vol. 74, Iss. 3, 2001-11 ,pp. : 293-302

Academic Press

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Congenital Lactic Acidosis: Evaluation of the Properties of the A199T Natural Variant of Human Pyruvate Dehydrogenase E1α by in Vitro Mutation

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Molecular Genetics and Metabolism, Vol. 72, Iss. 3, 2001-03 ,pp. : 269-272

Academic Press

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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.  

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Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis

By Hellerud C.   Adamowicz M.   Jurkiewicz D.   Taybert J.   Kubalska J.   Ciara E.   Popowska E.   Ellis J.R.   Lindstedt S.   Pronicka E.  

Molecular Genetics and Metabolism, Vol. 79, Iss. 3, 2003-07 ,pp. : 149-159

Elsevier

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

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

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