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A number of black SA individuals, strongly suspected of having FA based on their clinical features, have now been found to be heterozygous for the c.637-643delTACCGCC founder mutation.

Fanconi anaemia in black South African patients heterozygous for the FANCG c.637-643delTACCGCC founder mutation

There were no statistically significant association with homozygous and compound heterozygous mutation carriage and presence of FMF symptoms in our study population (Figure 2).

Prevalence of Mediterranean fever gene mutations in Turkish Cypriot population

In a previous study, a 22 year old male diagnosed with delayed puberty at 18 years was found to have compound heterozygous GNRHR mutations Gln106Arg and Arg262Gln.

A Novel Mutation Ser34Phe in GNRHR causes Hypogonadotropic Hypogonadism during Pubertal Development in Boys

Hb concentration in sickle cell heterozygous (AS) group ranged from 2.6-14.86 g/dL.

A study of haemoglobinopathies and haemoglobin variants using high performance liquid chromatography (HPLC) in a teaching hospital of Odisha

In our study, a homozygous mutation c.1139_1141dupGCG(p.Gly380_Ala381insGly) and a heterozygous mutation c.1359_1361dupCGG(p.Gly456_Gln457insGly) in FOXC1 were found in all subjects, but their clinical findings were variable.

Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome

Individuals with autosomal recessive PCD carry biallelic PROC mutations and have very low level of protein C, whereas individuals carrying heterozygous PROC mutations have protein C level at about 50% of reference values [1].

Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans

[11] showed that 54% of CNS cases had two heterozygous mutations and 2.5% had a compound of a heterozygous mutation and a nonsilent variant in the nephrin gene.

Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome

Men, "Basilar artery thrombosis in a child heterozygous for prothrombin gene G20210A mutation," in Journal of Child Neurology, vol.

Upper Limb Deep Vein Thrombosis in Patient with Hemophilia A and Heterozygosity for Prothrombin G20210A: A Case Report and Review of the Literature

Overall, the model showed that adding PCSK9 to statins for patients with heterozygous FH or ASCVD prevented 316,300 major adverse cardiovascular events (defined as cardiovascular death, nonfatal MI, or stroke), compared with adding ezetimibe; the cost was $503,000 per QALY.

PCSK9 inhibitors flunk the cost-effectiveness test

The report provides comprehensive information on the therapeutics under development for Heterozygous familial hypercholesterolemia (heFH), complete with analysis by stage of development, drug target, mechanism of action (MoA), route of administration (RoA) and molecule type.

New Market Report: Heterozygous familial hypercholesterolemia (heFH) - Pipeline Review, H1 2016

Out of 16 sub-types of Haemoglobin D, Hb-D Punjab or Los-Angeles is most common with 0.86% in Indo-Pakistan continent and 3.6% alone in Punjab.1 Hb-D can be homozygous, usually a rare entity with no clinical symptoms or can be heterozygous commonly with Haemoglobin-A, a benign alteration.

Haemoglobin sickle D disease: A presentation with ischaemic stroke