000 | 01763 a2200505 4500 | ||
---|---|---|---|
005 | 20250515141233.0 | ||
264 | 0 | _c20090508 | |
008 | 200905s 0 0 eng d | ||
022 | _a1476-5438 | ||
024 | 7 |
_a10.1038/ejhg.2008.167 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aHmani-Aifa, Mounira | |
245 | 0 | 0 |
_aIdentification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family. _h[electronic resource] |
260 |
_bEuropean journal of human genetics : EJHG _cApr 2009 |
||
300 |
_a474-82 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAmino Acid Sequence |
650 | 0 | 4 | _aBase Sequence |
650 | 0 | 4 | _aConsanguinity |
650 | 0 | 4 |
_aCyclic Nucleotide Phosphodiesterases, Type 6 _xgenetics |
650 | 0 | 4 | _aFamily |
650 | 0 | 4 |
_aHearing Loss _xcongenital |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMolecular Sequence Data |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 |
_aReceptors, G-Protein-Coupled _xgenetics |
650 | 0 | 4 |
_aRetinal Degeneration _xgenetics |
650 | 0 | 4 |
_aRetinitis Pigmentosa _xgenetics |
650 | 0 | 4 | _aTunisia |
650 | 0 | 4 |
_aUsher Syndromes _xgenetics |
700 | 1 | _aBenzina, Zeineb | |
700 | 1 | _aZulfiqar, Fareeha | |
700 | 1 | _aDhouib, Houria | |
700 | 1 | _aShahzadi, Amber | |
700 | 1 | _aGhorbel, Abdelmonem | |
700 | 1 | _aRebaï, Ahmed | |
700 | 1 | _aSöderkvist, Peter | |
700 | 1 | _aRiazuddin, Sheikh | |
700 | 1 | _aKimberling, William J | |
700 | 1 | _aAyadi, Hammadi | |
773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 17 _gno. 4 _gp. 474-82 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2008.167 _zAvailable from publisher's website |
999 |
_c18319570 _d18319570 |