In silico computation of functional SNPs of CYP2U1 protein leading to hereditary spastic paraplegia by Ammara Akhtar, Sobia Nazir Ch, Mureed Hussain

Subjects: Get full text

Genetic diversity and population structure of muscovy duck (Cairina moschata) from Nigeria by Adeniyi C. Adeola, Foluke E. Sola-Ojo, Yusuf A. Opeyemi, Abel O. Oguntunji, Lotanna Micah Nneji, Muslim K. Ewuola, Semiu F. Bello, Wasiu A. Olaniyi, Adeosun T. Adesoji, Alex P. Karuno, Oscar J. Sanke, Ebiakpo Lucky Daniel

Subjects: “…CYP2U1…”
Get full text

Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1 by Ferenc B. Sallo, MD, PhD, Chantal Dysli, MD, PhD, Franz Josef Holzer, MD, Emmanuelle Ranza, MD, Michel Guipponi, MD, Stylianos E. Antonarakis, MD, Francis L. Munier, MD, Alan C. Bird, MD, Daniel F. Schorderet, MD, Beatrice Rossillion, MD, Veronika Vaclavik, MD

Subjects: “…CYP2U1…”
Get full text

Co-occurrence of CLCN2-related leukoencephalopathy and SPG56 by Wejdan Almasoudi, Christer Nilsson, Ulrika Kjellström, Kevin Sandeman, Andreas Puschmann

Subjects: “…CYP2U1…”
Get full text

CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers by Sheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, Nenad Blau, Richard Rodenburg, Ching-wan Lam, Virginia Chun-Nei Wong, Fanny Mochel, Ron A. Wevers, Cheuk-Wing Fung

Subjects: “…CYP2U1…”
Get full text