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Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine.

An attempt was made to ascertain all the dwarfs in the State of Victoria. The incidence of achondroplasia proved to be approximately 1 in 26,000 live births in the period 1969 to 1975 when ascertainment was nearly complete. This indicates a mutation rate of 1.93 X 10(-5) per generation in this locus...

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Библиографические подробности
Главные авторы: Oberklaid, F, Danks, D M, Jensen, F, Stace, L, Rosshandler, S
Формат: Artigo
Язык:Inglês
Опубликовано: 1979
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1012739/
https://ncbi.nlm.nih.gov/pubmed/458831
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