| 000 | 01722 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250514045017.0 | ||
| 264 | 0 | _c20030103 | |
| 008 | 200301s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.9067 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHanein, Sylvain | |
| 245 | 0 | 0 |
_aEvidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin. _h[electronic resource] |
| 260 |
_bHuman mutation _cOct 2002 |
||
| 300 |
_a322-3 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aBlindness _xcongenital |
| 650 | 0 | 4 |
_aCyclic GMP _xmetabolism |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFinland |
| 650 | 0 | 4 | _aFounder Effect |
| 650 | 0 | 4 | _aGuanine |
| 650 | 0 | 4 |
_aGuanylate Cyclase _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLinkage Disequilibrium _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aNuclear Family |
| 650 | 0 | 4 |
_aOptic Atrophies, Hereditary _xenzymology |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aPolymorphism, Single Nucleotide _xgenetics |
| 650 | 0 | 4 |
_aSequence Deletion _xgenetics |
| 700 | 1 | _aPerrault, Isabelle | |
| 700 | 1 | _aOlsen, Päivi | |
| 700 | 1 | _aLopponen, Tuija | |
| 700 | 1 | _aHietala, Marja | |
| 700 | 1 | _aGerber, Sylvie | |
| 700 | 1 | _aJeanpierre, Marc | |
| 700 | 1 | _aBarbet, Fabienne | |
| 700 | 1 | _aDucroq, Dominique | |
| 700 | 1 | _aHakiki, Sélim | |
| 700 | 1 | _aMunnich, Arnold | |
| 700 | 1 | _aRozet, Jean-Michel | |
| 700 | 1 | _aKaplan, Josseline | |
| 773 | 0 |
_tHuman mutation _gvol. 20 _gno. 4 _gp. 322-3 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.9067 _zAvailable from publisher's website |
| 999 |
_c12154043 _d12154043 |
||