| 000 | 01795 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250514023625.0 | ||
| 264 | 0 | _c20020422 | |
| 008 | 200204s 0 0 eng d | ||
| 022 | _a1098-3600 | ||
| 024 | 7 |
_a10.1097/00125817-200201000-00004 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMailman, Matthew D | |
| 245 | 0 | 0 |
_aMolecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. _h[electronic resource] |
| 260 |
_bGenetics in medicine : official journal of the American College of Medical Genetics _c |
||
| 300 |
_a20-6 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 | _aAlleles |
| 650 | 0 | 4 | _aCyclic AMP Response Element-Binding Protein |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Carrier Screening |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNerve Tissue Proteins _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aRNA-Binding Proteins |
| 650 | 0 | 4 | _aSMN Complex Proteins |
| 650 | 0 | 4 |
_aSpinal Muscular Atrophies of Childhood _xgenetics |
| 650 | 0 | 4 | _aSurvival of Motor Neuron 1 Protein |
| 650 | 0 | 4 | _aSurvival of Motor Neuron 2 Protein |
| 700 | 1 | _aHeinz, John W | |
| 700 | 1 | _aPapp, Audrey C | |
| 700 | 1 | _aSnyder, Pamela J | |
| 700 | 1 | _aSedra, Mary S | |
| 700 | 1 | _aWirth, Brunhilde | |
| 700 | 1 | _aBurghes, Arthur H M | |
| 700 | 1 | _aPrior, Thomas W | |
| 773 | 0 |
_tGenetics in medicine : official journal of the American College of Medical Genetics _gvol. 4 _gno. 1 _gp. 20-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1097/00125817-200201000-00004 _zAvailable from publisher's website |
| 999 |
_c11748877 _d11748877 |
||