Cargando…

Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report

Detalles Bibliográficos
Autores principales: Šenjug, Petar, Nikuševa Martić, Tamara, Šenjug Perica, Marija, Oroz, Maja, Horaček, Matija, Ćuk, Martin, Abdović, Slaven, Galešić Ljubanović, Danica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Croatian Medical Schools 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852137/
https://www.ncbi.nlm.nih.gov/pubmed/31686460
http://dx.doi.org/10.3325/cmj.2019.60.458
_version_ 1783469762040299520
author Šenjug, Petar
Nikuševa Martić, Tamara
Šenjug Perica, Marija
Oroz, Maja
Horaček, Matija
Ćuk, Martin
Abdović, Slaven
Galešić Ljubanović, Danica
author_facet Šenjug, Petar
Nikuševa Martić, Tamara
Šenjug Perica, Marija
Oroz, Maja
Horaček, Matija
Ćuk, Martin
Abdović, Slaven
Galešić Ljubanović, Danica
author_sort Šenjug, Petar
collection PubMed
description
format Online
Article
Text
id pubmed-6852137
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher Croatian Medical Schools
record_format MEDLINE/PubMed
spelling pubmed-68521372019-11-22 Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report Šenjug, Petar Nikuševa Martić, Tamara Šenjug Perica, Marija Oroz, Maja Horaček, Matija Ćuk, Martin Abdović, Slaven Galešić Ljubanović, Danica Croat Med J Case Report Croatian Medical Schools 2019-10 /pmc/articles/PMC6852137/ /pubmed/31686460 http://dx.doi.org/10.3325/cmj.2019.60.458 Text en Copyright © 2019 by the Croatian Medical Journal. All rights reserved. http://creativecommons.org/licenses/by/2.5/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Šenjug, Petar
Nikuševa Martić, Tamara
Šenjug Perica, Marija
Oroz, Maja
Horaček, Matija
Ćuk, Martin
Abdović, Slaven
Galešić Ljubanović, Danica
Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report
title Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report
title_full Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report
title_fullStr Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report
title_full_unstemmed Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report
title_short Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report
title_sort autosomal recessive alport syndrome caused by a novel col4a4 splice site mutation: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852137/
https://www.ncbi.nlm.nih.gov/pubmed/31686460
http://dx.doi.org/10.3325/cmj.2019.60.458
work_keys_str_mv AT senjugpetar autosomalrecessivealportsyndromecausedbyanovelcol4a4splicesitemutationacasereport
AT nikusevamartictamara autosomalrecessivealportsyndromecausedbyanovelcol4a4splicesitemutationacasereport
AT senjugpericamarija autosomalrecessivealportsyndromecausedbyanovelcol4a4splicesitemutationacasereport
AT orozmaja autosomalrecessivealportsyndromecausedbyanovelcol4a4splicesitemutationacasereport
AT horacekmatija autosomalrecessivealportsyndromecausedbyanovelcol4a4splicesitemutationacasereport
AT cukmartin autosomalrecessivealportsyndromecausedbyanovelcol4a4splicesitemutationacasereport
AT abdovicslaven autosomalrecessivealportsyndromecausedbyanovelcol4a4splicesitemutationacasereport
AT galesicljubanovicdanica autosomalrecessivealportsyndromecausedbyanovelcol4a4splicesitemutationacasereport