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