Heidi Stöhr

Three novel ABCC5 splice variants in human retina and their role as regulators of ABCC5 gene expression (2007)

Stojic, Jelena, Stöhr, Heidi, Weber, Bernhard HF

Abstract Background The ABCC5 gene encodes an organic anion pump of the ATP-binding cassette (ABC) transporter family, subclass C. The exact physiological function of ABCC5 however is not known....

BMC Molecular Biology BioMed Central (2007)

Jelena Stojic, Heidi Stöhr, Bernhard Hf Weber, Bernhard Hf Weber

Research article Three novel ABCC5 splice variants in human retina and their role as regulators of ABCC5 gene expression

A Gene Map of the Best’s Vitelliform Macular Dystrophy Region in Chromosome 11q12–q13.1

Stöhr, Heidi, Marquardt, Andreas, Rivera, Andrea, Cooper, Paul R., Nowak, Norma J., Shows, Thomas B., ...

Best’s vitelliform macular dystrophy is an autosomal dominant disorder of unknown causes. To identify the underlying gene defect the disease locus has been mapped to an ∼1.4-Mb region on...

A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration

Rivera, Andrea, White, Karen, Stöhr, Heidi, Steiner, Klaus, Hemmrich, Nadine, Grimm, Timo, ...

Stargardt disease (STGD) is a common autosomal recessive maculopathy of early and young-adult onset and is caused by alterations in the gene encoding the photoreceptor-specific ATP-binding cassette...

A Gene Map of the Best’s Vitelliform Macular Dystrophy Region in Chromosome 11q12–q13.1

Stöhr, Heidi, Marquardt, Andreas, Rivera, Andrea, Cooper, Paul R., Nowak, Norma J., Shows, Thomas B., ...

Best’s vitelliform macular dystrophy is an autosomal dominant disorder of unknown causes. To identify the underlying gene defect the disease locus has been mapped to an ∼1.4-Mb region on...

A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration

Rivera, Andrea, White, Karen, Stöhr, Heidi, Steiner, Klaus, Hemmrich, Nadine, Grimm, Timo, ...

Stargardt disease (STGD) is a common autosomal recessive maculopathy of early and young-adult onset and is caused by alterations in the gene encoding the photoreceptor-specific ATP-binding cassette...