Rccx Module
Mostrando 1-2 de 2 artigos, teses e dissertações.
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1. Analise molecular do loco C4/CYP21 : impacto da variabilidade alelica provocada por recombinações sobre os metodos de avaliação de mutações / Molecular analysis of C4/CYP21 locus : influence of allelic variability caused by recombinations on current methods of mutation detection
Congenital adrenal hyperplasia is caused by deficiency of one of the five enzymes responsible for cortisol synthesis in the steroidogenesis. More than 90% of the cases occur due to deficiency of 21-hidroxilase (21-OH). The haploid human genome bears two copies in tandem of 21-OH coding gene, CYP21A2 and CYP21A1P. Although the two copies are approximately 98%
Publicado em: 2009
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2. Determining the One, Two, Three, or Four Long and Short Loci of Human Complement C4 in a Major Histocompatibility Complex Haplotype Encoding C4A or C4B Proteins
The complex genetics of human complement C4 with unusually frequent variations in the size and number of C4A and C4B, as well as their neighboring genes, in the major histocompatibility complex has been a hurdle for accurate epidemiological studies of diseases associated with C4. A comprehensive series of novel or improved techniques has been developed to de
The American Society of Human Genetics.