| 000 | 01658 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250517112242.0 | ||
| 264 | 0 | _c20171019 | |
| 008 | 201710s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.37755 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPiret, Sian E | |
| 245 | 0 | 0 |
_aAutosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _c11 2016 |
||
| 300 |
_a2988-2992 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAcidosis, Renal Tubular _xdiagnosis |
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChloride Channels |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Dominant |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHigh-Throughput Nucleotide Sequencing |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOsteopetrosis _xdiagnosis |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aRadiography |
| 700 | 1 | _aGorvin, Caroline M | |
| 700 | 1 | _aTrinh, Anne | |
| 700 | 1 | _aTaylor, John | |
| 700 | 1 | _aLise, Stefano | |
| 700 | 1 | _aTaylor, Jenny C | |
| 700 | 1 | _aEbeling, Peter R | |
| 700 | 1 | _aThakker, Rajesh V | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 170 _gno. 11 _gp. 2988-2992 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.37755 _zAvailable from publisher's website |
| 999 |
_c26342537 _d26342537 |
||