scholarly journals ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing

2018 ◽  
Vol 96 (7) ◽  
pp. 737-743 ◽  
Author(s):  
Frida Jonsson ◽  
Ida Maria Westin ◽  
Lennart Österman ◽  
Ola Sandgren ◽  
Marie Burstedt ◽  
...  
Keyword(s):  
Atp Binding ◽  
Stargardt Disease ◽  
Intronic Variants ◽  
Atp Binding Cassette

scholarly journals Genotype/Phenotype Analysis of a Photoreceptor-Specific ATP-Binding Cassette Transporter Gene, ABCR, in Stargardt Disease

1999 ◽  
Vol 64 (2) ◽  
pp. 422-434 ◽  
Author(s):  
Richard Alan Lewis ◽  
Noah F. Shroyer ◽  
Nanda Singh ◽  
Rando Allikmets ◽  
Amy Hutchinson ◽  
...  
Keyword(s):  
Atp Binding ◽  
Transporter Gene ◽  
Stargardt Disease ◽  
Atp Binding Cassette Transporter ◽  
Phenotype Analysis ◽  
Atp Binding Cassette

Stargardt Disease with Preserved Central Vision: identification of a putative novel mutation in ATP-binding cassette transporter gene

2011 ◽  
Vol 89 (3) ◽  
pp. e297-e298 ◽  
Author(s):  
Kaoru Fujinami ◽  
Masakazu Akahori ◽  
Masaki Fukui ◽  
Kazushige Tsunoda ◽  
Takeshi Iwata ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Atp Binding ◽  
Transporter Gene ◽  
Central Vision ◽  
Stargardt Disease ◽  
Atp Binding Cassette Transporter ◽  
Atp Binding Cassette

Immunolocalization and funtional role of scavenger receptor BI (SR-BI) and ATP-binding cassette A1 (ABC1)

2001 ◽  
Vol 120 (5) ◽  
pp. A678-A678
Author(s):  
I SUC ◽  
M BENDAYAN ◽  
E DELVIN ◽  
L BRISSETTE ◽  
C GAROFALO ◽  
...  
Keyword(s):  
Scavenger Receptor ◽  
Atp Binding ◽  
Scavenger Receptor Bi ◽  
Atp Binding Cassette

scholarly journals Stimulation of Cholesterol Excretion by the Liver X Receptor Agonist Requires ATP-binding Cassette Transporters G5 and G8

2003 ◽  
Vol 278 (18) ◽  
pp. 15565-15570 ◽  
Author(s):  
Liqing Yu ◽  
Jennifer York ◽  
Klaus von Bergmann ◽  
Dieter Lutjohann ◽  
Jonathan C. Cohen ◽  
...  
Keyword(s):  
Receptor Agonist ◽  
Liver X Receptor ◽  
Atp Binding ◽  
Atp Binding Cassette Transporters ◽  
Cholesterol Excretion ◽  
Liver X Receptor Agonist ◽  
Stimulation Of ◽  
Atp Binding Cassette
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