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Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling
Martorell, Loreto, Nascimento, María T, Colome, Roser, Genovés, Jordi, Naudó, Montserrat, Nascimento, AndrésVolume:
56
Language:
english
Journal:
Journal of Human Genetics
DOI:
10.1038/jhg.2010.140
Date:
January, 2011
File:
PDF, 239 KB
english, 2011