A 13-bp Deletion in the 3′ Untranslated Region of the β-Globin Gene Causes β-Thalassemia Major in Compound Heterozygosity with IVSII-1 Mutation

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Medical Principles and Practice, Vol. 20, Iss. 5, 2011-07 ,pp. : 488-490

Karger

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Normal Hb A 2 β-Thalassemia Trait: Frameshift Mutation ( HBB : c.187_251dup) in Cis with the Hb A 2' δ-Globin Gene Missense Mutation ( HBD : c.49G>C)

By Waye John S.   Eng Barry   Hellens Laurie   Hohenadel Betty-Ann   Nakamura Lisa M.   Walker Lynda  

Hemoglobin, Vol. 37, Iss. 2, 2013-04 ,pp. : 201-204

Informa Healthcare

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A new compound heterozygous mutation in the CYP17A1 gene in a female with 17α-hydroxylase/17,20-lyase deficiency

By Lee Eun Sil  

Gynecological Endocrinology, Vol. 29, Iss. 7, 2013-07 ,pp. : 720-723

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Coinheritance of a Novel Mutation on the HBA1 Gene: c.187delG (p.W62fsX66) [codon 62 (–G) (α1)] with the α212 Patchwork Allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]

By Scheps Karen G.   De Paula Silvia M.   Bitsman Alicia R.   Freigeiro Daniel H.   Basack F. Nora   Pennesi Sandra P.   Varela Viviana  

Hemoglobin, Vol. 37, Iss. 5, 2013-10 ,pp. : 492-500

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Homozygosity for the Severe β + -Thalassemia Mutation [IVS-I-5 (G>C)] Causes the Phenotype of Thalassemia Trait: An Extremely Rare Presentation

By Bohara Vinaykumar   Raut Lalit   Badarkhe Girish   Roy Siddartha S.   Chaudhuri Utpal  

Hemoglobin, Vol. 37, Iss. 1, 2013-02 ,pp. : 101-105

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