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A common 7 base pair deletion founder mutation (c.637643delTACCGCC) in the FANCG gene has been found in the homozygous state in 77.5% (31/40) of South African black patients and in a further 5% (2/40) of patients in the heterozygous state.
In the current study, the frequency of homozygous and compound heterozygous mutation carriers were 2.4%, which is higher than that in Turkey.
A haemoglobin study of mother was done which showed Hb F 0.9%, Hb A 95.2% and Hb A2 3.9% and diagnosis of beta thalassaemia trait with heterozygous hereditary elliptocytosis was made.
The patient, who was homozygous for completely inactivating S168R mutation exhibited complete IHH, whereas the affected patient, who was compound heterozygous for Gln106Arg-Arg262Gln mutations, showed partial HH (Fathi et al., 2013).
AS = Sickle cell heterozygous, SS = Sickle cell homozygous, BTT = [beta]-thalassaemia trait, BTI = [beta]-thalassaemia intermedia, BTM = [beta]-thalassaemia major, S[beta] = Compound heterozygous for Hb S and [beta]-thalassaemia, AE = Hb E heterozygous, EE = Hb E homozygous, E[beta] = Compound heterozygous for Hb E and [beta]-thalassaemia, SE = Compound heterozygous for Hb S and Hb E, SF = Compound heterozygous for Hb S and hereditary persistent of foetal haemoglobin, AD = Hb D Punjab heterozygous, RT = Retention time.
The global pivotal Phase 3 LDL-C lowering efficacy studies of the company's bempedoic acid is undergoing in patients with atherosclerotic cardiovascular disease (ASCVD), heterozygous familial hypercholesterolemia (HeFH) and "statin intolerant" with hypercholesterolemia inadequately treated with current lipid-modifying therapies.
DNA sequence analysis of PITX2 shows a heterozygous mutation c.-10-30T>C in subjects III-1 and III-3 (Figure 7).
Genetic testing showed that both parents are heterozygous for the p.Gly400Ser mutation in PROC, confirming the diagnosis of autosomal dominant PCD in both parents.
 reported a CNS patient that had two heterozygous single-base mutations (c.928G>A and c.1440+1G> A) in the NPHS1 gene.
Our patient developed right subclavian DVT in the arm used for self-injected FVIII prophylactic therapy and was found to have heterozygous mutation for prothrombin G20210A.
The researchers used the Cardiovascular Disease Policy Model, which included adults aged 35-94 years and compared the cost-effectiveness of PCSK9 inhibitors and ezetimibe in treating two of the three indications for the drugs, heterozygous familial hypercholesterolemia (FH) or atherosclerotic cardiovascular disease (ASCVD).
Global Markets Direct's, 'Heterozygous familial hypercholesterolemia (heFH) - Pipeline Review, H1 2016', provides an overview of the Heterozygous familial hypercholesterolemia (heFH) pipeline landscape.
It can be inherited rarely as homozygous causing no symptoms or heterozygous with Haemoglobin A, commonly not related to clinical symptomatology.
[USPRwire, Tue Feb 02 2016] GlobalData's clinical trial report, "" provides an overview of Heterozygous familial hypercholesterolemia (heFH) clinical trials scenario.
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