Just wanted to rant, never wanted to be on my own, always hoped I'd go first, how selfish of me! 7 Zatkova A : An update on molecular genetics of Alkaptonuria AKU | The full colour version of this figure is available at European Journal of Human Genetics online |
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Homogentisic acid accumulated in the body forms a melanin-like polymer that is deposited in the connective tissues, causing a pathologic pigmentation known as ochronosis | Two siblings carried also c |
35 Zatkova A, Polakova H, Micutkova L et al: Novel mutations in the homogentisate-1,2-dioxygenase gene identified in Slovak patients with alkaptonuria.
20Best of luck to all awaiting any results, it's so hard to put it to the backof your mind! I really can understand your worries about your husband's health, but Barrett's with High Grade Dysplasia is not cancer | Splicing variants We also identified two novel mutations potentially affecting mRNA splicing |
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As AKU does not generally reduce the lifespan of affected individuals, 40—160 cases are predicted | Hum Mutat 2000; 15: 7—12 |