| 000 | 01670 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250515160026.0 | ||
| 264 | 0 | _c20090323 | |
| 008 | 200903s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2009.01.006 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPolok, Bozena | |
| 245 | 0 | 0 |
_aMutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cFeb 2009 |
||
| 300 |
_a259-65 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAmelogenesis Imperfecta _xgenetics |
| 650 | 0 | 4 |
_aCation Transport Proteins _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Duplication |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 650 | 0 | 4 |
_aRetinal Cone Photoreceptor Cells _xpathology |
| 650 | 0 | 4 |
_aRetinal Rod Photoreceptor Cells _xpathology |
| 650 | 0 | 4 |
_aRetinitis Pigmentosa _xgenetics |
| 650 | 0 | 4 | _aSequence Deletion |
| 700 | 1 | _aEscher, Pascal | |
| 700 | 1 | _aAmbresin, Aude | |
| 700 | 1 | _aChouery, Eliane | |
| 700 | 1 | _aBolay, Sylvain | |
| 700 | 1 | _aMeunier, Isabelle | |
| 700 | 1 | _aNan, Francis | |
| 700 | 1 | _aHamel, Christian | |
| 700 | 1 | _aMunier, Francis L | |
| 700 | 1 | _aThilo, Bernard | |
| 700 | 1 | _aMégarbané, André | |
| 700 | 1 | _aSchorderet, Daniel F | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 84 _gno. 2 _gp. 259-65 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2009.01.006 _zAvailable from publisher's website |
| 999 |
_c18644726 _d18644726 |
||