Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research
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چکیده
منابع مشابه
Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research
Clinical anophthalmia is a rare inherited disease of the eye and phenotype refers to the absence of ocular tissue in the orbit of eye. Patients may have unilateral or bilateral anophthalmia, and generally have short palpebral fissures and small orbits. Anophthalmia may be isolated or associated with a broader syndrome and may have genetic or environmental causes. However, genetic cause has been...
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Mucopolysaccharidosis type IIIC (MPSIIIC) is a rare subtype of mucopolysaccharidosis disorder family caused by mutations in heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. MPSIIIC is subdivided into four subtypes which have overlapping features, and are indistinguishable at clinical level. In populations with high consanguineous marriage rate, homozygosity mapping can be a good c...
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Background and Aims: One of the neurotransmitters in the brain is Histamine which acts as several biological mechanism regulators like inflammation, gastric acid secretion, and neuromodulation. Inactivation of Histamine occurs by histamine N-methyltransferase (HNMT) enzyme. The HNMT transfers a methyl group from S-adenosyl-L-methionine to Histamine and is the main process for the termination of...
متن کاملA mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family
PURPOSE Aphakia is the complete absence of any lens in the eye, either due to surgical removal of the lens as a result of a perforating wound or ulcer, or due to a congenital anomaly. The purpose of this study was to elucidate the molecular genetics for a large consanguineous Pakistani family with a clear aphakia phenotype. METHODS The initial homozygosity screening of the family was extended...
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ژورنال
عنوان ژورنال: Balkan Journal of Medical Genetics
سال: 2016
ISSN: 1311-0160
DOI: 10.1515/bjmg-2016-0010