A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.

作者: F Rousseau , D Heitz , J Tarleton , J MacPherson , H Malmgren

DOI:

关键词: PopulationAllele frequencyGenotypeMacroorchidismCytogeneticsGene mutationFragile X syndromeGeneticsBiologyX chromosome

摘要: We report the results of a 14-center collaborative study of genotype-phenotype correlations in 318 fragile X families; these families comprised 2,253 individuals, 1,344 of whom carried a …

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