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Molecular Genetics and Metabolism, Vol. 73, Iss. 4, 2001-08 ,pp. : 344-348

Academic Press

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Duplication of 111 bases in exon 1 of the CYP21 gene is combined with deletion of CYP21P-C4B genes in steroid 21-hydroxylase deficiency

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Familial Mediterranean fever with amyloidosis associated with novel exon 2 mutation (S1791) of the MEFV gene

By Timmann C.   Mersinli O.   Kuhne K.   Sievertsen J.   Griebel M.A.   Dieckerhoff J.   Horstmann R.D.  

Blood Cells, Molecules, and Diseases, Vol. 31, Iss. 3, 2003-11 ,pp. : 320-323

Elsevier

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A common G10430A mutation (Gly 60 Ser) in the factor IX gene describes the presence of moderate and mild hemophilia B in the majority of the Gujarati population

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A Novel Missense Mutation in the Nuclear Factor-κB Essential Modulator (NEMO) Gene Resulting in Impaired Activation of the NF-κB Pathway and a Unique Clinical Phenotype Presenting as MRSA Subdural Empyema

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Journal of Clinical Immunology, Vol. 30, Iss. 6, 2010-11 ,pp. : 881-885

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