Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p
about
AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteinsHomozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.Leber congenital amaurosis: disease, genetics and therapy.Molecular and Histopathological Changes Associated with Keratoconus.A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis.Inner retinal abnormalities in a mouse model of Leber's congenital amaurosis.Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA.
P2860
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P2860
Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p
description
article
@en
im August 2001 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
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наукова стаття, опублікована в серпні 2001
@uk
ലേഖനം
@ml
name
Leber's congenital amaurosis w ...... ation in the AIPL1 gene on 17p
@en
Leber's congenital amaurosis w ...... ation in the AIPL1 gene on 17p
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type
label
Leber's congenital amaurosis w ...... ation in the AIPL1 gene on 17p
@en
Leber's congenital amaurosis w ...... ation in the AIPL1 gene on 17p
@nl
prefLabel
Leber's congenital amaurosis w ...... ation in the AIPL1 gene on 17p
@en
Leber's congenital amaurosis w ...... ation in the AIPL1 gene on 17p
@nl
P2093
P1476
Leber's congenital amaurosis w ...... ation in the AIPL1 gene on 17p
@en
P2093
Alnoor Jamal
Dennis Bulman
Karim F. Damji
Magali Loyer
Melanie M. Sohocki
Musa Rahim
Naushad Hussein
Nermin Karim
Ravesh Khan
Robert K. Koenekoop
P304
P356
10.1016/S0008-4182(01)80018-1
P577
2001-08-01T00:00:00Z