000 01931 a2200601 4500
005 20250515162803.0
264 0 _c20090617
008 200906s 0 0 eng d
022 _a1552-4833
024 7 _a10.1002/ajmg.a.32753
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aAldahmesh, Mohamed A
245 0 0 _aAllelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example.
_h[electronic resource]
260 _bAmerican journal of medical genetics. Part A
_cFeb 2009
300 _a662-5 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAlleles
650 0 4 _aBase Sequence
650 0 4 _aCardiomyopathy, Dilated
_xgenetics
650 0 4 _aCell Cycle Proteins
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aCodon, Nonsense
650 0 4 _aConsanguinity
650 0 4 _aDNA
_xgenetics
650 0 4 _aDNA Mutational Analysis
650 0 4 _aFemale
650 0 4 _aFrameshift Mutation
650 0 4 _aHearing Loss, Sensorineural
_xgenetics
650 0 4 _aHeterozygote
650 0 4 _aHomozygote
650 0 4 _aHumans
650 0 4 _aInsulin Resistance
_xgenetics
650 0 4 _aLiver Failure
_xgenetics
650 0 4 _aMale
650 0 4 _aMutation
650 0 4 _aObesity
_xgenetics
650 0 4 _aProteins
_xgenetics
650 0 4 _aRenal Insufficiency
_xgenetics
650 0 4 _aRetinitis Pigmentosa
_xgenetics
650 0 4 _aSaudi Arabia
650 0 4 _aSyndrome
700 1 _aAbu-Safieh, Leen
700 1 _aKhan, Arif O
700 1 _aAl-Hassnan, Zuhair N
700 1 _aShaheen, Ranad
700 1 _aRajab, Mohammed
700 1 _aMonies, Dorota
700 1 _aMeyer, Brian F
700 1 _aAlkuraya, Fowzan S
773 0 _tAmerican journal of medical genetics. Part A
_gvol. 149A
_gno. 4
_gp. 662-5
856 4 0 _uhttps://doi.org/10.1002/ajmg.a.32753
_zAvailable from publisher's website
999 _c18723130
_d18723130