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- ... HUMAN TP2 TRT Tests of TERT PubMed TELOMERASE REVERSE TRANSCRIPTASE; TERT APLASTIC ANEMIA NCBI Gene ClinVar Arish ... A, Hamosh A, Greider CW. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis ...
- Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy. ...
- Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys.In complete LCAT deficiency, the clear front surface of the eyes (the corneas) ...
- The LCAT gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase (LCAT). This enzyme plays a role in removing cholesterol ...
- ... the original sequence with the same sequence in reverse order. Frameshift A reading frame consists of groups ...
- ... enzyme also carries out this chemical reaction in reverse, which is a step in building new ketones ( ...
- ... proton). Carbonic anhydrases can also carry out the reverse reaction, forming carbon dioxide and water from bicarbonate. ...
- ... marker derived from chromosome 2 by forward and reverse chromosome painting. Am J Med Genet. 1999 Nov ...
- ... pathway is called retrograde because it is in reverse order of the usual process for newly produced ...
- ... for most cells. This enzyme also promotes the reverse chemical reaction, the conversion of UDP-glucose to ...