| 000 | 02541 a2200757 4500 | ||
|---|---|---|---|
| 005 | 20250515174109.0 | ||
| 264 | 0 | _c20090702 | |
| 008 | 200907s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2009.05.007 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFriedman, James S | |
| 245 | 0 | 0 |
_aMutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cJun 2009 |
||
| 300 |
_a792-800 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 |
_aAutoantigens _xgenetics |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 7 _xgenetics |
| 650 | 0 | 4 | _aEnzyme-Linked Immunosorbent Assay |
| 650 | 0 | 4 | _aGene Expression Profiling |
| 650 | 0 | 4 | _aGenes, Dominant |
| 650 | 0 | 4 | _aGenetic Linkage |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aImmunoblotting |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 | _aOligonucleotide Array Sequence Analysis |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aPolymorphism, Single Nucleotide _xgenetics |
| 650 | 0 | 4 |
_aRetinitis Pigmentosa _xgenetics |
| 650 | 0 | 4 | _aReverse Transcriptase Polymerase Chain Reaction |
| 650 | 0 | 4 | _aSequence Homology, Amino Acid |
| 700 | 1 | _aRay, Joseph W | |
| 700 | 1 | _aWaseem, Naushin | |
| 700 | 1 | _aJohnson, Kory | |
| 700 | 1 | _aBrooks, Matthew J | |
| 700 | 1 | _aHugosson, Therése | |
| 700 | 1 | _aBreuer, Debra | |
| 700 | 1 | _aBranham, Kari E | |
| 700 | 1 | _aKrauth, Daniel S | |
| 700 | 1 | _aBowne, Sara J | |
| 700 | 1 | _aSullivan, Lori S | |
| 700 | 1 | _aPonjavic, Vesna | |
| 700 | 1 | _aGränse, Lotta | |
| 700 | 1 | _aKhanna, Ritu | |
| 700 | 1 | _aTrager, Edward H | |
| 700 | 1 | _aGieser, Linn M | |
| 700 | 1 | _aHughbanks-Wheaton, Dianna | |
| 700 | 1 | _aCojocaru, Radu I | |
| 700 | 1 | _aGhiasvand, Noor M | |
| 700 | 1 | _aChakarova, Christina F | |
| 700 | 1 | _aAbrahamson, Magnus | |
| 700 | 1 | _aGöring, Harald H H | |
| 700 | 1 | _aWebster, Andrew R | |
| 700 | 1 | _aBirch, David G | |
| 700 | 1 | _aAbecasis, Goncalo R | |
| 700 | 1 | _aFann, Yang | |
| 700 | 1 | _aBhattacharya, Shomi S | |
| 700 | 1 | _aDaiger, Stephen P | |
| 700 | 1 | _aHeckenlively, John R | |
| 700 | 1 | _aAndréasson, Sten | |
| 700 | 1 | _aSwaroop, Anand | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 84 _gno. 6 _gp. 792-800 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2009.05.007 _zAvailable from publisher's website |
| 999 |
_c18939900 _d18939900 |
||