| 000 | 01593 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250515221412.0 | ||
| 264 | 0 | _c20100511 | |
| 008 | 201005s 0 0 eng d | ||
| 022 | _a1090-0535 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aYasmeen, Afshan | |
| 245 | 0 | 0 |
_aAutosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1. _h[electronic resource] |
| 260 |
_bMolecular vision _cApr 2010 |
||
| 300 |
_a682-8 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aCataract _xcongenital |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFamily |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGalactokinase _xchemistry |
| 650 | 0 | 4 |
_aGenes, Recessive _xgenetics |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aLod Score |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aPakistan |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aSequence Alignment |
| 700 | 1 | _aRiazuddin, S Amer | |
| 700 | 1 | _aKaul, Haiba | |
| 700 | 1 | _aMohsin, Sadia | |
| 700 | 1 | _aKhan, Mohsin | |
| 700 | 1 | _aQazi, Zaheeruddin A | |
| 700 | 1 | _aNasir, Idrees A | |
| 700 | 1 | _aZafar, Ahmad U | |
| 700 | 1 | _aKhan, Shaheen N | |
| 700 | 1 | _aHusnain, Tayyab | |
| 700 | 1 | _aAkram, Javed | |
| 700 | 1 | _aHejtmancik, J Fielding | |
| 700 | 1 | _aRiazuddin, Sheikh | |
| 773 | 0 |
_tMolecular vision _gvol. 16 _gp. 682-8 |
|
| 999 |
_c19762960 _d19762960 |
||