000 | 01519 a2200445 4500 | ||
---|---|---|---|
005 | 20250515163352.0 | ||
264 | 0 | _c20090514 | |
008 | 200905s 0 0 eng d | ||
022 | _a1523-6838 | ||
024 | 7 |
_a10.1053/j.ajkd.2008.12.026 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aSimpson, Michael A | |
245 | 0 | 0 |
_aLethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3. _h[electronic resource] |
260 |
_bAmerican journal of kidney diseases : the official journal of the National Kidney Foundation _cMay 2009 |
||
300 |
_a790-5 p. _bdigital |
||
500 | _aPublication Type: Comparative Study; Journal Article | ||
650 | 0 | 4 |
_aDNA _xgenetics |
650 | 0 | 4 | _aDNA Mutational Analysis |
650 | 0 | 4 | _aEthnicity |
650 | 0 | 4 | _aExons |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aHomozygote |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aInfant, Newborn |
650 | 0 | 4 |
_aKidney Diseases, Cystic _xcongenital |
650 | 0 | 4 |
_aKinesins _xgenetics |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aPregnancy |
650 | 0 | 4 | _aPrognosis |
650 | 0 | 4 | _aSurvival Rate |
650 | 0 | 4 | _aUnited States |
700 | 1 | _aCross, Harold E | |
700 | 1 | _aCross, Leroy | |
700 | 1 | _aHelmuth, Mervin | |
700 | 1 | _aCrosby, Andrew H | |
773 | 0 |
_tAmerican journal of kidney diseases : the official journal of the National Kidney Foundation _gvol. 53 _gno. 5 _gp. 790-5 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1053/j.ajkd.2008.12.026 _zAvailable from publisher's website |
999 |
_c18741610 _d18741610 |