Distal RTA with nerve deafness: Clinical spectrum and mutational analysis in five children

Pediatric Nephrology

Volumn 22, Issue 6, 2007, Pages 825-828

  Gil, Helena ^a   Santos, Fernando ^a,b,c,e   García, Enrique ^c,d   Álvarez, María Victoria ^a   Ordóñez, Flor A ^a   Málaga, Serafín ^a,b   Coto, Eliecer ^a  

^a HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^b UNIVERSITY OF OVIEDO   (Spain)

^c DEPARTAMENTO DE BIOQUÍMICA Y BIOLOGÍA MOLECULAR   (Spain)

^d HOSPITAL ÁLVAREZ BUYLLA   (Spain)

^e Faculty de Medicina   (Spain)

Author keywords

ATP6V1B1 gene; Distal renal tubular acidosis; Gene mutation; Hypercalciuria; Metabolic acidosis; Nephrocalcinosis

Indexed keywords

BICARBONATE; CYSTEINE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATASE; THREONINE;

AMINO ACID SUBSTITUTION; ARTICLE; BICARBONATE BLOOD LEVEL; BLOOD PH; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EXON; FAMILY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GROWTH RETARDATION; HEARING LOSS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERCALCIURIA; INFANT; INTRON; KIDNEY CALCIFICATION; KIDNEY DISTAL TUBULE; KIDNEY TUBULE ACIDOSIS; MALE; MUTATIONAL ANALYSIS; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING; URINE PH;

EID: 34247399862     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-006-0417-7     Document Type: Article

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