| 000 | 01432 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250513080644.0 | ||
| 264 | 0 | _c19930408 | |
| 008 | 199304s 0 0 eng d | ||
| 022 | _a0022-2593 | ||
| 024 | 7 |
_a10.1136/jmg.30.2.123 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHarmon, D L | |
| 245 | 0 | 0 |
_aTwo new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cFeb 1993 |
||
| 300 |
_a123-8 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDNA _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHexosaminidase A |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 | _aProtein Conformation |
| 650 | 0 | 4 | _aSequence Alignment |
| 650 | 0 | 4 |
_aTay-Sachs Disease _xenzymology |
| 650 | 0 | 4 |
_abeta-N-Acetylhexosaminidases _xchemistry |
| 700 | 1 | _aGardner-Medwin, D | |
| 700 | 1 | _aStirling, J L | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 30 _gno. 2 _gp. 123-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.30.2.123 _zAvailable from publisher's website |
| 999 |
_c8444887 _d8444887 |
||