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Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… a copy of the gene from both parents is needed for expression.) The chromosomal location of the proposed gene …
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… of healthy immune cells. A bone marrow transplant from a tissue-matched sister or brother offers the greatest chance …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… center is becoming a repository for data derived from gene expression studies. By pooling information, researchers hope …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… which examines a person's genes and determines their genotype. Alpha-1 antitrypsin PI type of phenotype test, …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.