A novel frame-shift deletion causing analbuminaemia in an Italian paediatric patient

Author:

Dagnino M.,Caridi G.,Marsciani M.,Bettocchi I.,Tassinari D.,Bernardi F.,Chiodo F.,Campagnoli M.,Galliano M.,Minchiotti L.

Publisher

Wiley

Subject

Clinical Biochemistry,Biochemistry,General Medicine

Reference11 articles.

1. 2The Albumin Website. Available at: http://albumin.org (accessed 10 October 2009 at the temporary web-site http://healthcensus.org/albumin/#cat_id=0).

2. Mutations and polymorphisms of the gene of the major human blood protein, serum albumin;Minchiotti;Hum Mutat,2008

3. A nucleotide insertion and frameshift cause analbuminemia in an Italian family;Watkins;Proc Natl Acad Sci USA,1994

4. Congenital analbuminaemia: biochemical and clinical implications. A case report and literature review;Koot;Eur J Pediatr,2004

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1. Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia;Frontiers in Genetics;2019-04-17

2. Analbuminaemia: clinical features and associated hypercholesterolaemia;Annals of Clinical Biochemistry: International Journal of Laboratory Medicine;2016-07-19

3. A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family;Biochemia Medica;2016

4. Molecular Genetics of Analbuminaemia;eLS;2014-01-15

5. Congenital analbuminaemia: Molecular defects and biochemical and clinical aspects;Biochimica et Biophysica Acta (BBA) - General Subjects;2013-12

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