| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5906606 | Gene | 2013 | 5 Pages |
Abstract
⺠The BBS patients had obesity, polydactyly, rod cone dystrophy and renal dysplasia. ⺠Proband had bilateral basal ganglion calcification characteristic of Fahr disease. ⺠250k SNP array genotyping was used to obtain the homozygous regions. ⺠Homozygosity was found at three genes i.e. BBS10, BBS14 and BBS2. ⺠Novel deletion (p.Ser653I1efx4) in BBS10 was the causative mutation in the patients.
Keywords
chaperonin containing TCP-1CBCRetinitis pigmentosaBBSCysSGOTTRICSGPTCEP290TCP1CNVMkksDNAdeoxyribonucleic acidisoleucineIleSERFahr's diseaseFrame shiftcopy number variationcomputed tomographydeletionDELSerineBardet–Biedl syndromeCysteinecomplete blood countintellectual disabilitySingle nucleotide polymorphismSNPserum glutamate pyruvate transaminase
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Authors
Zehra Agha, Zafar Iqbal, Maleeha Azam, Lies H. Hoefsloot, Hans van Bokhoven, Raheel Qamar,