Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
1 Online-Ressource.
- Sprache
-
Englisch
- Erschienen in
-
Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria ; volume:32 ; number:11 ; day:25 ; month:3 ; year:2024 ; pages:1506-1514 ; date:11.2024
European journal of human genetics ; 32, Heft 11 (25.3.2024), 1506-1514, 11.2024
- Urheber
-
Guleray Lafci, Naz
Goor, Mark van
Cetinkaya, Semra
Wijst, Jenny van der
Acun, Melisa
Kurt Colak, Fatma
Cetinkaya, Arda
Hoenderop, Joost
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1038/s41431-024-01589-9
- URN
-
urn:nbn:de:101:1-2502052200161.315164816174
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
15.08.2025, 07:32 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Guleray Lafci, Naz
- Goor, Mark van
- Cetinkaya, Semra
- Wijst, Jenny van der
- Acun, Melisa
- Kurt Colak, Fatma
- Cetinkaya, Arda
- Hoenderop, Joost
- SpringerLink (Online service)
Ähnliche Objekte (12)
Autosomal recessive cerebellar ataxias
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Autosomal recessive myotonia congenita in sheep
Genetics of autosomal recessive intellectual disability
A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsNephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal RecessiveFAM20AMutations
Calcium
Calcium
Calcium
Calcium.
Calcium
Autosomal recessive cerebellar ataxias
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Autosomal recessive myotonia congenita in sheep
Genetics of autosomal recessive intellectual disability
A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsNephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal RecessiveFAM20AMutations
Calcium
Calcium
Calcium
Calcium.
Calcium
Autosomal recessive cerebellar ataxias
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder
Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Autosomal recessive myotonia congenita in sheep
Genetics of autosomal recessive intellectual disability
A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsNephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal RecessiveFAM20AMutations
Calcium
Calcium
Calcium
Calcium.