Barbara Melville

Harlequin ichthyosis is an autosomal recessive disorder resulting from mutations in the ABCA12 gene.

Jan 19, 2011 - Barbara Melville

Familial adenomatous polyposis causes colorectal cancer, and is the result of mutations in either the APC gene or the MUTYH gene.

Dec 10, 2010 - Barbara Melville

Beta thalassemia is caused by mutations in the HBB gene, and is inherited in an autosomal recessive manner.

Dec 7, 2010 - Barbara Melville

DNA is the chemical that holds hereditary information, with its structure allowing for stability and accurate copying.

Sep 8, 2010 - Barbara Melville

Resulting from a missing portion of chromosome 17, Smith-Magenis syndrome is a developmental disorder that is usually not inherited.

Sep 5, 2010 - Barbara Melville

Myotonic dystrophy type 2 is caused by a mutation in the CNBP gene, and has an autosomal dominant inheritance pattern.

Sep 5, 2010 - Barbara Melville

Myotonic dystrophy type 1 is a type of muscular dystrophy, and is caused by a mutation in the DMPK gene.

Sep 5, 2010 - Barbara Melville

Trisomy 18, also known as Edward's syndrome, is a condition resulting from extra genetic material.

Jun 20, 2010 - Barbara Melville

Single nucleotide polymorphisms (SNPs) are genetic variations that occur in humans, and are significant in the study of genomes.

Jun 12, 2010 - Barbara Melville

Turner syndrome, also known as monosomy X, is a chromosomal condition resulting from missing genetic material.

May 23, 2010 - Barbara Melville