| 000 | 01653 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250513191649.0 | ||
| 264 | 0 | _c19991012 | |
| 008 | 199910s 0 0 eng d | ||
| 022 | _a1090-6576 | ||
| 024 | 7 |
_a10.1089/gte.1997.1.237 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLiu, W O | |
| 245 | 0 | 0 |
_aDenaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. _h[electronic resource] |
| 260 |
_bGenetic testing _c |
||
| 300 |
_a237-42 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. | ||
| 650 | 0 | 4 | _aChromatography, High Pressure Liquid |
| 650 | 0 | 4 |
_aConnective Tissue Diseases _xdiagnosis |
| 650 | 0 | 4 |
_aDNA Mutational Analysis _xmethods |
| 650 | 0 | 4 | _aEvaluation Studies as Topic |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aFibrillin-1 |
| 650 | 0 | 4 | _aFibrillins |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aGenetic Carrier Screening |
| 650 | 0 | 4 |
_aGenetic Testing _xmethods |
| 650 | 0 | 4 | _aHeteroduplex Analysis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntrons _xgenetics |
| 650 | 0 | 4 |
_aMarfan Syndrome _xdiagnosis |
| 650 | 0 | 4 |
_aMicrofilament Proteins _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aNucleic Acid Hybridization |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 | _aPolymorphism, Genetic |
| 700 | 1 | _aOefner, P J | |
| 700 | 1 | _aQian, C | |
| 700 | 1 | _aOdom, R S | |
| 700 | 1 | _aFrancke, U | |
| 773 | 0 |
_tGenetic testing _gvol. 1 _gno. 4 _gp. 237-42 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1089/gte.1997.1.237 _zAvailable from publisher's website |
| 999 |
_c10422196 _d10422196 |
||