COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

BACKGROUND: About 40–50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the full phenotypic spectrum of these patients varies a lot, ranging from isolat...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:BMC Nephrol
Asıl Yazarlar: Voskarides, Konstantinos, Papagregoriou, Gregory, Hadjipanagi, Despina, Petrou, Ioanelli, Savva, Isavella, Elia, Avraam, Athanasiou, Yiannis, Pastelli, Androulla, Kkolou, Maria, Hadjigavriel, Michalis, Stavrou, Christoforos, Pierides, Alkis, Deltas, Constantinos
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2018
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5954460/
https://ncbi.nlm.nih.gov/pubmed/29764427
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-018-0906-5
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller