| 000 | 01856 a2200553 4500 | ||
|---|---|---|---|
| 005 | 20250516013604.0 | ||
| 264 | 0 | _c20110118 | |
| 008 | 201101s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2010.10.026 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMochida, Ganeshwaran H | |
| 245 | 0 | 0 |
_aA homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cDec 2010 |
||
| 300 |
_a882-9 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aCalcinosis _xgenetics |
| 650 | 0 | 4 |
_aCataract _xcongenital |
| 650 | 0 | 4 |
_aCell Adhesion Molecules _xgenetics |
| 650 | 0 | 4 |
_aCerebral Hemorrhage _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aEpendyma _xpathology |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aTight Junctions _xmetabolism |
| 700 | 1 | _aGanesh, Vijay S | |
| 700 | 1 | _aFelie, Jillian M | |
| 700 | 1 | _aGleason, Danielle | |
| 700 | 1 | _aHill, R Sean | |
| 700 | 1 | _aClapham, Katie Rose | |
| 700 | 1 | _aRakiec, Daniel | |
| 700 | 1 | _aTan, Wen-Hann | |
| 700 | 1 | _aAkawi, Nadia | |
| 700 | 1 | _aAl-Saffar, Muna | |
| 700 | 1 | _aPartlow, Jennifer N | |
| 700 | 1 | _aTinschert, Sigrid | |
| 700 | 1 | _aBarkovich, A James | |
| 700 | 1 | _aAli, Bassam | |
| 700 | 1 | _aAl-Gazali, Lihadh | |
| 700 | 1 | _aWalsh, Christopher A | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 87 _gno. 6 _gp. 882-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2010.10.026 _zAvailable from publisher's website |
| 999 |
_c20402153 _d20402153 |
||