| 000 | 01849 a2200565 4500 | ||
|---|---|---|---|
| 005 | 20250514025837.0 | ||
| 264 | 0 | _c20020523 | |
| 008 | 200205s 0 0 eng d | ||
| 022 | _a0002-9297 | ||
| 024 | 7 |
_a10.1086/339986 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRichard, Gabriele | |
| 245 | 0 | 0 |
_aMissense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cMay 2002 |
||
| 300 |
_a1341-8 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. | ||
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aConnexin 26 |
| 650 | 0 | 4 |
_aConnexins _xgenetics |
| 650 | 0 | 4 |
_aCornea _xmetabolism |
| 650 | 0 | 4 |
_aEctodermal Dysplasia _xgenetics |
| 650 | 0 | 4 |
_aEpithelium _xmetabolism |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFluorescent Antibody Technique |
| 650 | 0 | 4 | _aHeLa Cells |
| 650 | 0 | 4 |
_aHearing Loss, Sensorineural _xgenetics |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIchthyosis _xgenetics |
| 650 | 0 | 4 |
_aKeratitis _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aProtein Transport |
| 650 | 0 | 4 |
_aSkin _xmetabolism |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aRouan, Fatima | |
| 700 | 1 | _aWilloughby, Colin E | |
| 700 | 1 | _aBrown, Nkecha | |
| 700 | 1 | _aChung, Pil | |
| 700 | 1 | _aRyynänen, Markku | |
| 700 | 1 | _aJabs, Ethylin Wang | |
| 700 | 1 | _aBale, Sherri J | |
| 700 | 1 | _aDiGiovanna, John J | |
| 700 | 1 | _aUitto, Jouni | |
| 700 | 1 | _aRussell, Laura | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 70 _gno. 5 _gp. 1341-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1086/339986 _zAvailable from publisher's website |
| 999 |
_c11817911 _d11817911 |
||