Chapter-24 Genetic Diseases
BOOK TITLE: Medical Biochemistry
Author
1. Aroor AR
ISBN
9788184487282
DOI
10.5005/jp/books/11450_24
Edition
1/e
Publishing Year
2011
Pages
10
Author Affiliations
1.
University of Missouri, School of Medicine, Columbia, Missouri, USA
Chapter keywords
Genetic diseases,
single gene disorders,
mutations,
point mutations,
gross mutations,
trinucleotide repeat expansions,
deletions,
insertions,
family pedigree,
non-dysjunction,
Down’s syndrome,
Patau syndrome,
Edwards’s syndrome,
Turner’s syndrome,
Triple X syndrome,
Klinefelter’s syndrome,
double Y syndrome,
translocations,
duplications,
chromosomal inversions,
IDDM,
NIDDM,
hypertension,
atherosclerosis,
southern blotting,
phenyl ketonuria,
maple urine disease,
tyrosinemia,
amniocentesis,
loading tests