A novel missense mutation in glucose-6-phosphate dehydrogenase gene causing chronic nonspherocytic hemolytic anemia in an Indian family

By Edison Eunice   Melinkeri Sameer   Chandy Mammen  

Annals of Hematology, Vol. 85, Iss. 12, 2006-12 ,pp. : 879-880

Springer Publishing Company

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Identification of a Novel Pancreatitis-Associated Missense Mutation, R116C, in the Human Cationic Trypsinogen Gene (PRSS1)

By Le Maréchal C.   Bretagne J-F.   Raguénès O.   Quéré I.   Chen J-M.   Ferec C.  

Molecular Genetics and Metabolism, Vol. 74, Iss. 3, 2001-11 ,pp. : 342-344

Academic Press

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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

By Devora Gene   Sun Lijun   Chen Zhijian   Oers Nicolai   Hanson Eric   Orange Jordan   Morena M.  

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

Springer Publishing Company

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Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele

By Coulter-Mackie M.B.   Gagnier L.  

Molecular Genetics and Metabolism, Vol. 79, Iss. 2, 2003-06 ,pp. : 91-98

Elsevier

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Novel missense mutation c.2685G>C (p.Q895H) in VWF gene associated with very low levels of VWF mRNA

By Cabrera Noelia  

Annals of Hematology, Vol. 88, Iss. 3, 2009-03 ,pp. : 245-247

Springer Publishing Company

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