Presence of compound heterozygous mutations in the PKHD1 gene in an asymptomatic patient
Main Authors: | , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2020-11-01
|
Series: | Nefrología (English Edition) |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2013251420301383 |
_version_ | 1819074455184343040 |
---|---|
author | María Isabel Luis-Yanes Georgina Martínez Gómez Carolina Tapia-Romero Patricia Tejera-Carreño Víctor M. García-Nieto |
author_facet | María Isabel Luis-Yanes Georgina Martínez Gómez Carolina Tapia-Romero Patricia Tejera-Carreño Víctor M. García-Nieto |
author_sort | María Isabel Luis-Yanes |
collection | DOAJ |
first_indexed | 2024-12-21T18:09:47Z |
format | Article |
id | doaj.art-ba7d5ea49f3f4e02b3e8aeaa5955c176 |
institution | Directory Open Access Journal |
issn | 2013-2514 |
language | English |
last_indexed | 2024-12-21T18:09:47Z |
publishDate | 2020-11-01 |
publisher | Elsevier |
record_format | Article |
series | Nefrología (English Edition) |
spelling | doaj.art-ba7d5ea49f3f4e02b3e8aeaa5955c1762022-12-21T18:54:50ZengElsevierNefrología (English Edition)2013-25142020-11-01406672673Presence of compound heterozygous mutations in the PKHD1 gene in an asymptomatic patientMaría Isabel Luis-Yanes0Georgina Martínez Gómez1Carolina Tapia-Romero2Patricia Tejera-Carreño3Víctor M. García-Nieto4Sección de Nefrología Pediátrica del Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, SpainServicio de Nefrología Pediátrica de la UMAE Hospital de Pediatría CMNO, Guadalajara, MexicoServicio de Nefrología Pediátrica de la UMAE Hospital de Pediatría CMNO, Guadalajara, MexicoSección de Nefrología Pediátrica del Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, SpainSección de Nefrología Pediátrica del Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain; Corresponding author.http://www.sciencedirect.com/science/article/pii/S2013251420301383 |
spellingShingle | María Isabel Luis-Yanes Georgina Martínez Gómez Carolina Tapia-Romero Patricia Tejera-Carreño Víctor M. García-Nieto Presence of compound heterozygous mutations in the PKHD1 gene in an asymptomatic patient Nefrología (English Edition) |
title | Presence of compound heterozygous mutations in the PKHD1 gene in an asymptomatic patient |
title_full | Presence of compound heterozygous mutations in the PKHD1 gene in an asymptomatic patient |
title_fullStr | Presence of compound heterozygous mutations in the PKHD1 gene in an asymptomatic patient |
title_full_unstemmed | Presence of compound heterozygous mutations in the PKHD1 gene in an asymptomatic patient |
title_short | Presence of compound heterozygous mutations in the PKHD1 gene in an asymptomatic patient |
title_sort | presence of compound heterozygous mutations in the pkhd1 gene in an asymptomatic patient |
url | http://www.sciencedirect.com/science/article/pii/S2013251420301383 |
work_keys_str_mv | AT mariaisabelluisyanes presenceofcompoundheterozygousmutationsinthepkhd1geneinanasymptomaticpatient AT georginamartinezgomez presenceofcompoundheterozygousmutationsinthepkhd1geneinanasymptomaticpatient AT carolinatapiaromero presenceofcompoundheterozygousmutationsinthepkhd1geneinanasymptomaticpatient AT patriciatejeracarreno presenceofcompoundheterozygousmutationsinthepkhd1geneinanasymptomaticpatient AT victormgarcianieto presenceofcompoundheterozygousmutationsinthepkhd1geneinanasymptomaticpatient |