D. DO NOT COMPLY WITH PERFORMANCE STANDARDS; ARE HELD AND WILL REMAIN UNDER BOND; AND WILL NOT BE. INTRODUCED INTO COMMERCE UNTIL NOTIFICATION IS RECEIVED FROM FDA THAT PRODUCTS HAVE BEEN BROUGHT. INTO COMPLIANCE IN ACCORDANCE WITH AN FDA APPROVED PETITION.
HHMI researchers identify gene mutations that cause a potentially fatal clotting disorder. Researchers have determined the cause of a potentially deadly inherited blood-clotting disorder that can lead to kidney failure or stroke. The researchers found that the disorder, thrombotic thrombocytopenic purpura (TTP), is caused by mutations in a gene that render the ADAMTS13 enzyme ineffective.
Phenotypic Series. TEXT. A number sign (#) is used with this entry because of evidence that autosomal dominant dilated cardiomyopathy-1G (CMD1G) is caused by heterozygous mutation in the titin gene (TTN; 188840) on chromosome 2q31.2012) used next-generation sequencing to analyze the TTN gene in 203 individuals with dilated cardiomyopathy, 231 with hypertrophic cardiomyopathy (CMH), and 249 controls.