| 000 | 01707 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250513121642.0 | ||
| 264 | 0 | _c19970710 | |
| 008 | 199707s 0 0 eng d | ||
| 022 | _a0002-9297 | ||
| 024 | 7 |
_a10.1086/515471 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLin, T | |
| 245 | 0 | 0 |
_aSpectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cJun 1997 |
||
| 300 |
_a1384-8 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 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aCells, Cultured |
| 650 | 0 | 4 | _aConserved Sequence |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFibroblasts |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 |
_aGolgi Apparatus _xenzymology |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aLymphocytes |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOculocerebrorenal Syndrome _xgenetics |
| 650 | 0 | 4 |
_aPhosphoric Monoester Hydrolases _xchemistry |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 | _aPolymorphism, Single-Stranded Conformational |
| 650 | 0 | 4 | _aProtein Biosynthesis |
| 650 | 0 | 4 |
_aProteins _xchemistry |
| 650 | 0 | 4 | _aSequence Alignment |
| 650 | 0 | 4 | _aSequence Deletion |
| 700 | 1 | _aOrrison, B M | |
| 700 | 1 | _aLeahey, A M | |
| 700 | 1 | _aSuchy, S F | |
| 700 | 1 | _aBernard, D J | |
| 700 | 1 | _aLewis, R A | |
| 700 | 1 | _aNussbaum, R L | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 60 _gno. 6 _gp. 1384-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1086/515471 _zAvailable from publisher's website |
| 999 |
_c9180074 _d9180074 |
||