000 | 01517 a2200433 4500 | ||
---|---|---|---|
005 | 20250515082540.0 | ||
264 | 0 | _c20071109 | |
008 | 200711s 0 0 eng d | ||
022 | _a1434-5161 | ||
024 | 7 |
_a10.1007/s10038-007-0181-y _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aAquaron, Robert | |
245 | 0 | 0 |
_aOculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene. _h[electronic resource] |
260 |
_bJournal of human genetics _c2007 |
||
300 |
_a771-780 p. _bdigital |
||
500 | _aPublication Type: Journal Article | ||
650 | 0 | 4 |
_aAlbinism, Oculocutaneous _xgenetics |
650 | 0 | 4 |
_aAnemia, Sickle Cell _xgenetics |
650 | 0 | 4 | _aCameroon |
650 | 0 | 4 | _aCase-Control Studies |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGene Deletion |
650 | 0 | 4 | _aGenotype |
650 | 0 | 4 |
_aGlobins _xgenetics |
650 | 0 | 4 | _aHaplotypes |
650 | 0 | 4 | _aHomozygote |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aMembrane Transport Proteins _xgenetics |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
700 | 1 | _aSoufir, Nadem | |
700 | 1 | _aBergé-Lefranc, Jean-Louis | |
700 | 1 | _aBadens, Catherine | |
700 | 1 | _aAusterlitz, Frederic | |
700 | 1 | _aGrandchamp, Bernard | |
773 | 0 |
_tJournal of human genetics _gvol. 52 _gno. 9 _gp. 771-780 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10038-007-0181-y _zAvailable from publisher's website |
999 |
_c17296494 _d17296494 |