| 000 | 01852 a2200565 4500 | ||
|---|---|---|---|
| 005 | 20250513135958.0 | ||
| 264 | 0 | _c19980423 | |
| 008 | 199804s 0 0 eng d | ||
| 022 | _a0022-2593 | ||
| 024 | 7 |
_a10.1136/jmg.35.2.103 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWöhrle, D | |
| 245 | 0 | 0 |
_aUnusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cFeb 1998 |
||
| 300 |
_a103-11 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aBlotting, Southern |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aChorionic Villi _xphysiology |
| 650 | 0 | 4 | _aDNA Methylation |
| 650 | 0 | 4 |
_aDNA Restriction Enzymes _xchemistry |
| 650 | 0 | 4 | _aElectrophoresis, Agar Gel |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFragile X Mental Retardation Protein |
| 650 | 0 | 4 |
_aFragile X Syndrome _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aImmunohistochemistry |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMosaicism |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNerve Tissue Proteins _xblood |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPregnancy |
| 650 | 0 | 4 | _aPrenatal Diagnosis |
| 650 | 0 | 4 |
_aRNA-Binding Proteins _xblood |
| 650 | 0 | 4 | _aSex Chromosome Aberrations |
| 650 | 0 | 4 | _aSex Chromosomes |
| 650 | 0 | 4 |
_aTrinucleotide Repeats _xgenetics |
| 700 | 1 | _aSalat, U | |
| 700 | 1 | _aGläser, D | |
| 700 | 1 | _aMücke, J | |
| 700 | 1 | _aMeisel-Stosiek, M | |
| 700 | 1 | _aSchindler, D | |
| 700 | 1 | _aVogel, W | |
| 700 | 1 | _aSteinbach, P | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 35 _gno. 2 _gp. 103-11 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.35.2.103 _zAvailable from publisher's website |
| 999 |
_c9475215 _d9475215 |
||