Concepedia

Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families

C Bouchet, Sandrine Vuillaumier‐Barrot, M. Gonzalés, S. Boukari, Christiane Le Bizec, C. Fallet, Anne‐Lise Delezoide, Hélène Moirot, A. Laquérrière, Férechté Encha‐Razavi,

Molecular Genetics and Metabolism · 2006 · 24 citations · 7 references

DOI

Concepts

References

7

Diagnostic criteria for Walker‐Warburg syndrome

William B. Dobyns, Roberta A Pagon, Dawna Armstrong et al. · American Journal of Medical Genetics · 1989 · 448 citations

, , +16

<i>POMT2</i> mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

J. van Reeuwijk · Journal of Medical Genetics · 2005 · 417 citations · Full text

, , +14

Demonstration of mammalian protein <i>O</i> -mannosyltransferase activity: Coexpression of POMT1 and POMT2 required for enzymatic activity

Hiroshi Manya, Atsuro Chiba, Aruto Yoshida et al. · Proceedings of the National Academy of Sciences · 2003 · 361 citations · Full text

, , +17

Identification of a Human Homolog of the Drosophila rotated abdomen Gene (POMT1) Encoding a Putative Protein O-Mannosyl-Transferase, and Assignment to Human Chromosome 9q34.1

L.A. Pérez Jurado, Antonio Coloma, Jesús Cruces · Genomics · 1999 · 121 citations

, , +8

The expanding phenotype of<i>POMT1</i>mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation

Jeroen van Reeuwijk, Svetlana Maugenre, Christa van den Elzen et al. · Human Mutation · 2006 · 112 citations

, , +13