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Molecular Genetics and Metabolism, Vol. 72, Iss. 1, 2001-01 ,pp. : 67-71

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HLA-H Mutations in the Ashkenazi Jewish Population

By Beutler E.   Gelbart T.  

Blood Cells, Molecules, and Diseases, Vol. 23, Iss. 1, 1997-04 ,pp. : 95-98

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A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis

By Williams S.L.   Taanman J-W.   Hansíková H.   Houšt'ková H.   Chowdhury S.   Zeman J.   Houštěk J.  

Molecular Genetics and Metabolism, Vol. 73, Iss. 4, 2001-08 ,pp. : 340-343

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Presence of a Major WFS1 Mutation in Spanish Wolfram Syndrome Pedigrees

By Gómez-Zaera M.   Strom T.M.   Rodríguez B.   Estivill X.   Meitinger T.   Nunes V.  

Molecular Genetics and Metabolism, Vol. 72, Iss. 1, 2001-01 ,pp. : 72-81

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Carrier Assessment in Families with Lowe Oculocerebrorenal Syndrome: Novel Mutations in the OCRL1 Gene and Correlation of Direct DNA Diagnosis with Ocular Examination

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Molecular Genetics and Metabolism, Vol. 69, Iss. 3, 2000-03 ,pp. : 213-222

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