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Two polymorphisms, apolipoprotein A5 (APOA5) −1131T>C and apolipoprotein C3 (APOC3) −482C>T, were examined in a healthy Chinese group. Analysis of covariance (ancova) showed that both −1131T>C and −482C>T minor alleles were associated with triglyceride (TG)-raising effects (p < 0.001 and...
Prader–Willi syndrome (PWS) is caused by lack of expression of paternally inherited genes on chromosome 15q11→15q13. Most cases result from microdeletions in proximal chromosome 15q. The remainder results from maternal uniparental disomy of chromosome 15, imprinting center defects, and rarely...
A mild type of autosomal recessive, non-syndromic mental retardation (NSMR) is linked to loci on chromosome 3p. This report delimits the MRT2A minimal critical region to 4.2 Mb between loci D3S3630 and D3S1304. This interval contains nine genes (IL5RA, TRNT1, LRRN1, SETMAR, SUMF1, ITPR1, BHLHB2,...
Epidemiological data favors genetic predisposition for schizophrenia, a common and complex mental disorder in most populations. Search for the genes involved using candidate genes, positional cloning, and chromosomal aberrations including triplet repeat expansions have established a number of...
It is increasingly recognized that mutations in genes and pathways critical for left-right (L-R) patterning are involved in common isolated congenital malformations such as congenital heart disease, biliary tract anomalies, renal polycystic disease, and malrotation of the intestine, indicating...
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