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Titel:

Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial.

Dokumenttyp:
Article; Journal Article
Autor(en):
Boeckhaus, Jan; Hoefele, Julia; Riedhammer, Korbinian M; Tönshoff, Burkhard; Ehren, Rasmus; Pape, Lars; Latta, Kay; Fehrenbach, Henry; Lange-Sperandio, Baerbel; Kettwig, Matthias; Hoyer, Peter; Staude, Hagen; Konrad, Martin; John, Ulrike; Gellermann, Jutta; Hoppe, Bernd; Galiano, Matthias; Gessner, Michaela; Pohl, Michael; Bergmann, Carsten; Friede, Tim; Gross, Oliver
Abstract:
Early initiation of therapy in patients with Alport syndrome (AS) slows down renal failure by many years. Genotype-phenotype correlations propose that the location and character of the individual's variant correlate with the renal outcome and any extra renal manifestations. In-depth clinical and genetic data of 60/62 children who participated in the EARLY PRO-TECT Alport trial were analyzed. Genetic variants were interpreted according to current guidelines and criteria. Genetically solved patien...     »
Zeitschriftentitel:
Clin Genet
Jahr:
2021
Band / Volume:
99
Heft / Issue:
1
Seitenangaben Beitrag:
143-156
Volltext / DOI:
doi:10.1111/cge.13861
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/33040356
Print-ISSN:
0009-9163
TUM Einrichtung:
Fachgebiet Nephrologie (Prof. Heemann); Institut für Humangenetik
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