De novo SEC61A1 mutation in autosomal dominant tubulo‐interstitial kidney disease: Phenotype expansion and review of literature

De novo SEC61A1 mutation in autosomal dominant tubulo‐interstitial kidney disease: Phenotype expansion and review of literature

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Bibliographic Details
Published in:Journal of paediatrics and child health Vol. 57; no. 8; pp. 1305 - 1307
Main Authors: Espino‐Hernández, Mar, Palma Milla, Carmen, Vara‐Martín, Julia, González‐Granado, Luis I
Format: Journal Article
Language:English
Published: Australia John Wiley & Sons Australia, Ltd 01-08-2021
Blackwell Publishing Ltd
Subjects:
Genetic disorders
Genotype & phenotype
Humans
Kidney diseases
Kidney Diseases - genetics
Mutation
Pediatrics
Phenotype
SEC Translocation Channels - genetics
Online Access:Get full text
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Description
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Review-3
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ObjectType-Feature-5
ObjectType-Article-4
ObjectType-Report-1
ISSN:1034-4810
1440-1754
DOI:10.1111/jpc.15148