Corinne Antignac

Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

J. Weissenbach, R. Heilig, F. Silbermann, 2000, American journal of human genetics.

Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.

C. Antignac, M. Gubler, B. Knebelmann, 1992, American journal of human genetics.

Literature Abstracts

Not Available Not Available, G. Mollet, L. Heidet, 2001, Pediatric Nephrology.

Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.

C. Antignac, S. Cherqui, L. Forestier, 1999, American journal of human genetics.

Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype.

N. Cotte, C. Antignac, G. Alonso, 1998, Journal of the American Society of Nephrology : JASN.