| 000 | 01702 a2200433 4500 | ||
|---|---|---|---|
| 005 | 20250515004640.0 | ||
| 264 | 0 | _c20070703 | |
| 008 | 200707s 0 0 eng d | ||
| 022 | _a1084-8592 | ||
| 024 | 7 |
_a10.1007/BF03260084 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMartínez, Raquel | |
| 245 | 0 | 0 |
_aSkewed X inactivation of the normal allele in fully mutated female carriers determines the levels of FMRP in blood and the fragile X phenotype. _h[electronic resource] |
| 260 |
_bMolecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology _c2005 |
||
| 300 |
_a157-62 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aBlotting, Southern |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFragile X Mental Retardation Protein _xblood |
| 650 | 0 | 4 |
_aFragile X Syndrome _xgenetics |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aX Chromosome Inactivation _xgenetics |
| 700 | 1 | _aBonilla-Henao, Victoria | |
| 700 | 1 | _aJiménez, Antonio | |
| 700 | 1 | _aLucas, Miguel | |
| 700 | 1 | _aVega, Carmen | |
| 700 | 1 | _aRamos, Inmaculada | |
| 700 | 1 | _aSobrino, Francisco | |
| 700 | 1 | _aPintado, Elizabeth | |
| 773 | 0 |
_tMolecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology _gvol. 9 _gno. 3 _gp. 157-62 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/BF03260084 _zAvailable from publisher's website |
| 999 |
_c15896339 _d15896339 |
||