A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.07.001
Abstract: Congenital analbuminemia (OMIM # 616000) is an extremely rare autosomal recessive disorder, caused by variations in the albumin gene (ALB), which is generally thought to be a relatively benign condition in adulthood, but seems to… read more here.
Keywords: albumin gene; consanguineous family; insertion; genetics ... See more keywords
Variations in the Human Serum Albumin Gene: Molecular and Functional Aspects
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DOI: 10.3390/ijms23031159
Abstract: The human albumin gene, the most abundant serum protein, is located in the long arm of chromosome 4, near the centromere, position 4q11–3. It is divided by 14 intervening introns into 15 exons, the last… read more here.
Keywords: albumin gene; serum albumin; variations human; gene molecular ... See more keywords