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Hereditary hemorrhagic telangiectasia - Symptoms and causes HHT is a condition of gene changes, called genetic, that you get from your parents It is an autosomal dominant disorder That means if one of your parents has HHT, you have a 50% chance of getting it If you have HHT, each of your children has a 50% chance of getting it from you
Hereditary hemorrhagic telangiectasia - Wikipedia Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain [1][2]
About Hereditary Hemorrhagic Telangiectasia (HHT) HHT is a disorder in which some blood vessels do not develop properly A person with HHT may form abnormal capillaries or abnormal capillary connections between the arteries and veins Capillaries are tiny blood vessels that pass blood from arteries to veins
What does HTT stand for? - Abbreviations. com Looking for the definition of HTT? Find out what is the full meaning of HTT on Abbreviations com! 'Human Touch Technology' is one option -- get in to view more @ The Web's largest and most authoritative acronyms and abbreviations resource
HTT Gene - GeneCards | HD Protein | HD Antibody HTT (Huntingtin) is a Protein Coding gene Diseases associated with HTT include Huntington Disease and Lopes-Maciel-Rodan Syndrome Among its related pathways are Gene expression (Transcription) and Transcriptional Regulation by MECP2
HTT protein expression summary - The Human Protein Atlas Official gene symbol, which is typically a short form of the gene name, according to HGNC Assigned HPA protein class (es) for the encoded protein (s) Number of protein-coding transcripts from the gene as defined by Ensembl
HTT huntingtin - NIH Genetic Testing Registry (GTR) - NCBI Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product