Search for dissertations about: "Bodil Edman Ahlbom"

Found 1 swedish dissertation containing the words Bodil Edman Ahlbom.

2. 1. Molecular investigations on chromosome 21 in relation to Down syndrome and familial congenital hypothyroidism

   Author : Bodil Edman Ahlbom; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

   Abstract : Chromosomal abnormalities as well as mutations in single genes are genetic changes that can cause syndromes or inherited diseases. Down syndrome (DS), usually a consequence of trisomy 21, is a gene dosage disorder caused by an extra copy of genes on chromosome 21, but the mechanisms whereby specific genes contribute to the clinical features of DS are not known. READ MORE