| 000 | 01868 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250517213743.0 | ||
| 264 | 0 | _c20190506 | |
| 008 | 201905s 0 0 eng d | ||
| 022 | _a0065-2598 | ||
| 024 | 7 |
_a10.1007/978-3-319-75402-4_27 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBiswas, Pooja | |
| 245 | 0 | 0 |
_aWhole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree. _h[electronic resource] |
| 260 |
_bAdvances in experimental medicine and biology _c2018 |
||
| 300 |
_a219-228 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 11 _xgenetics |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aConserved Sequence |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xchemistry |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aGenetic Linkage |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aINDEL Mutation |
| 650 | 0 | 4 | _aPakistan |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 650 | 0 | 4 |
_aRetinal Degeneration _xgenetics |
| 650 | 0 | 4 | _aSequence Alignment |
| 650 | 0 | 4 | _aSequence Homology, Amino Acid |
| 650 | 0 | 4 | _aSpecies Specificity |
| 650 | 0 | 4 |
_aTranscription Factors _xchemistry |
| 650 | 0 | 4 | _aExome Sequencing |
| 700 | 1 | _aNaeem, Muhammad Asif | |
| 700 | 1 | _aAli, Muhammad Hassaan | |
| 700 | 1 | _aAssir, Muhammad Zaman | |
| 700 | 1 | _aKhan, Shaheen N | |
| 700 | 1 | _aRiazuddin, Sheikh | |
| 700 | 1 | _aHejtmancik, J Fielding | |
| 700 | 1 | _aRiazuddin, S Amer | |
| 700 | 1 | _aAyyagari, Radha | |
| 773 | 0 |
_tAdvances in experimental medicine and biology _gvol. 1074 _gp. 219-228 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/978-3-319-75402-4_27 _zAvailable from publisher's website |
| 999 |
_c28352657 _d28352657 |
||