The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation

By Brautbar A.   Elstein D.   Abrahamov A.   Zeigler M.   Chicco G.   Beutler E.   Scott C.R.   Zimran A.  

Blood Cells, Molecules, and Diseases, Vol. 31, Iss. 2, 2003-09 ,pp. : 187-189

Elsevier

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Genotype-Phenotype Correlation in Two Frequent Mutations and Mutation Update in Type III Glycogen Storage Disease

By Shaiu W-L.   Kishnani P.S.   Shen J.   Liu H-M.   Chen Y-T.  

Molecular Genetics and Metabolism, Vol. 69, Iss. 1, 2000-01 ,pp. : 16-23

Academic Press

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The Correlation of Genotype and Phenotype in Portuguese Hyperphenylalaninemic Patients

By Rivera I.   Cabral A.   Almeida M.   Leandro P.   Carmona C.   Eusébio F.   Tasso T.   Vilarinho L.   Martins E.   Lechner M.C.   de Almeida I.T.   Konecki D.S.   Lichter-Konecki U.  

Molecular Genetics and Metabolism, Vol. 69, Iss. 3, 2000-03 ,pp. : 195-203

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Genotype–Phenotype Correlations in Disorders of Peroxisome Biogenesis

By Moser H.W.  

Molecular Genetics and Metabolism, Vol. 68, Iss. 2, 1999-10 ,pp. : 316-327

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Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype

By Orvisky E.   Park J.K.   LaMarca M.E.   Ginns E.I.   Martin B.M.   Tayebi N.   Sidransky E.  

Molecular Genetics and Metabolism, Vol. 76, Iss. 4, 2002-08 ,pp. : 262-270

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