TY  - GEN
AU  - Martínez,Raquel
AU  - Bonilla-Henao,Victoria
AU  - Jiménez,Antonio
AU  - Lucas,Miguel
AU  - Vega,Carmen
AU  - Ramos,Inmaculada
AU  - Sobrino,Francisco
AU  - Pintado,Elizabeth
TI  - Skewed X inactivation of the normal allele in fully mutated female carriers determines the levels of FMRP in blood and the fragile X phenotype
SN  - 1084-8592
PY  - 2007///0703
KW  - Alleles
KW  - Blotting, Southern
KW  - Exons
KW  - genetics
KW  - Female
KW  - Fragile X Mental Retardation Protein
KW  - blood
KW  - Fragile X Syndrome
KW  - Heterozygote
KW  - Homozygote
KW  - Humans
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - X Chromosome Inactivation
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/BF03260084
ER  -