R
Robert Spegal
Publications - 1
Citations - 284
Robert Spegal is an academic researcher. The author has contributed to research in topics: Gene & Gene mapping. The author has an hindex of 1, co-authored 1 publications receiving 268 citations.
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Mutations in the CNGB3 gene encoding the β-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21
Susanne Kohl,Britta Baumann,Martina Broghammer,Herbert Jägle,Paul A. Sieving,Ulrich Kellner,Robert Spegal,Mario Anastasi,Eberhart Zrenner,Lindsay T. Sharpe,Bernd Wissinger +10 more
TL;DR: Using RT-PCR and RACE, the human cDNA homologue, designated CNGB3, was identified and cloned, which encodes an 809 amino acid polypeptide and was present on 11 of 22 disease chromosomes segregating in families.