A Common Intron 3 Mutation (IVS3 -48c→g) Leads to Misdiagnosis of the c.845G→A (C282Y) HFE Gene Mutation

By Beutler E.   Gelbart T.  

Blood Cells, Molecules, and Diseases, Vol. 26, Iss. 3, 2000-06 ,pp. : 229-233

Academic Press

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Carrier Frequency of the Common Mutation IVS8-1G>C in DHCR7 and Estimate of the Expected Incidence of Smith–Lemli–Opitz Syndrome

By Battaile K.P.   Battaile B.C.   Merkens L.S.   Maslen C.L.   Steiner R.D.  

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

Academic Press

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Selective IgG2 deficiency due to a point mutation causing abnormal splicing of the C2 gene

By Zhao Yaofeng   Pan-Hammarström Qiang   Zhao Zhihui   Wen Sicheng   Hammarström Lennart  

International Immunology, Vol. 17, Iss. 1, 2005-01 ,pp. : 95-101

Oxford University Press

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3849 + 10 kb C → T Splicing Mutation in Hispanic CF Patients

By Liang M-H.   Wertz K.K.   Bowman C.M.   Hsu E.   Shapiro B.   Wong L-J.C.  

Molecular Genetics and Metabolism, Vol. 64, Iss. 3, 1998-07 ,pp. : 213-216

Academic Press

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Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon–Lefe`vre syndrome

By Hart P.S.   Pallos D.   Zhang Y.   Sanchez J.   Kavamura I.   Brunoni D.   Hart T.C.  

Molecular Genetics and Metabolism, Vol. 76, Iss. 2, 2002-06 ,pp. : 145-147

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