000 | 01281 a2200373 4500 | ||
---|---|---|---|
005 | 20250515054239.0 | ||
264 | 0 | _c20070409 | |
008 | 200704s 0 0 eng d | ||
022 | _a1552-4825 | ||
024 | 7 |
_a10.1002/ajmg.a.31553 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aYan, Denise | |
245 | 0 | 0 |
_aPaternal uniparental disomy of chromosome 13 causing homozygous 35delG mutation of the GJB2 gene and hearing loss. _h[electronic resource] |
260 |
_bAmerican journal of medical genetics. Part A _cFeb 2007 |
||
300 |
_a385-6 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural | ||
650 | 0 | 4 | _aChromosomes, Human, Pair 13 |
650 | 0 | 4 | _aConnexin 26 |
650 | 0 | 4 |
_aConnexins _xgenetics |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGene Frequency |
650 | 0 | 4 |
_aHearing Loss _xgenetics |
650 | 0 | 4 | _aHomozygote |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aSequence Deletion |
650 | 0 | 4 | _aUniparental Disomy |
700 | 1 | _aOuyang, Xiao Mei | |
700 | 1 | _aAngeli, Simon I | |
700 | 1 | _aDu, Li Lin | |
700 | 1 | _aLiu, Xue Zong | |
773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 143 _gno. 4 _gp. 385-6 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.31553 _zAvailable from publisher's website |
999 |
_c16818712 _d16818712 |