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Linkage studies in X-linked Alport's syndrome.
Szpiro-Tapia S, Bobrie G, Guilloud-Bataille M, Heuertz S, Julier C, Frézal J, Grünfeld JP, Hors-Cayla MC. Szpiro-Tapia S, et al. Hum Genet. 1988 Dec;81(1):85-7. doi: 10.1007/BF00283736. Hum Genet. 1988. PMID: 2904407
The anonymous PAS45 probe detects RFLPs in 13q31.
Gross MS, Sefiani A, de Tand MF, Lau YF, Saidi-Mehtar N, Hors-Cayla MC, Frezal J, Van Cong N. Gross MS, et al. Ann Genet. 1989;32(2):73-7. Ann Genet. 1989. PMID: 2569289
Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.
Antignac C, Knebelmann B, Drouot L, Gros F, Deschênes G, Hors-Cayla MC, Zhou J, Tryggvason K, Grünfeld JP, Broyer M, et al. Antignac C, et al. Among authors: hors cayla mc. J Clin Invest. 1994 Mar;93(3):1195-207. doi: 10.1172/JCI117073. J Clin Invest. 1994. PMID: 8132760 Free PMC article.
Genetic, clinical, and morphologic heterogeneity in Alport's syndrome.
Gubler MC, Antignac C, Deschênes G, Knebelmann B, Hors-Cayla MC, Grünfeld JP, Broyer M, Habib R. Gubler MC, et al. Among authors: hors cayla mc. Adv Nephrol Necker Hosp. 1993;22:15-35. Adv Nephrol Necker Hosp. 1993. PMID: 8427057 Review. No abstract available.
52 results