| 000 | 01332 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250513104751.0 | ||
| 264 | 0 | _c19970106 | |
| 008 | 199701s 0 0 eng d | ||
| 022 | _a0340-6717 | ||
| 024 | 7 |
_a10.1007/s004390050292 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGermain, D | |
| 245 | 0 | 0 |
_aFluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease. _h[electronic resource] |
| 260 |
_bHuman genetics _cDec 1996 |
||
| 300 |
_a719-26 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 |
_aFabry Disease _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenetic Carrier Screening _xmethods |
| 650 | 0 | 4 | _aGenetic Techniques |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 | _aPromoter Regions, Genetic |
| 650 | 0 | 4 | _aSequence Deletion |
| 650 | 0 | 4 |
_aalpha-Galactosidase _xgenetics |
| 700 | 1 | _aBiasotto, M | |
| 700 | 1 | _aTosi, M | |
| 700 | 1 | _aMeo, T | |
| 700 | 1 | _aKahn, A | |
| 700 | 1 | _aPoenaru, L | |
| 773 | 0 |
_tHuman genetics _gvol. 98 _gno. 6 _gp. 719-26 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s004390050292 _zAvailable from publisher's website |
| 999 |
_c8924124 _d8924124 |
||