Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene

Clinical Genetics

Volumn 69, Issue 2, 2006, Pages 135-144

  Feldman, M ^a   Prikis, M ^a   Athanasiou, Y ^a   Elia, A ^a   Pierides, A ^a   Deltas, C Constantinou ^a  

^a UNIVERSITY OF CYPRUS   (Cyprus)

Author keywords

ATPV1B1 gene; Cyprus; Distal renal tubular acidosis (dRTA); Founder effect; Greek Cypriot families; Haplotypes

Indexed keywords

ALKALI; BICARBONATE; CARBONATE DEHYDRATASE; CHLORIDE; DNA; GUANINE; POTASSIUM; PROTON; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATASE; TYROSINE;

ACID BASE BALANCE; ADULT; AGE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BASOLATERAL MEMBRANE; CHILD DEATH; CHLORIDE TRANSPORT; CHROMOSOME 2; CLINICAL ARTICLE; DISEASE COURSE; DNA DETERMINATION; DNA SEQUENCE; EXTRACORPOREAL LITHOTRIPSY; FAILURE TO THRIVE; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GREECE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HYPOKALEMIC PERIODIC PARALYSIS; KIDNEY CALCIFICATION; KIDNEY COLIC; KIDNEY COLLECTING TUBULE; KIDNEY FUNCTION; KIDNEY TUBULE ACIDOSIS; LINKAGE ANALYSIS; MALE; NEPHROLITHIASIS; PERCEPTION DEAFNESS; PERINATAL PERIOD; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; PROTON TRANSPORT; RECESSIVE INHERITANCE; RICKETS; URETER STONE;

ACIDOSIS, RENAL TUBULAR; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENES, RECESSIVE; GREECE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; MALE; MUTATION; PEDIGREE; VACUOLAR PROTON-TRANSLOCATING ATPASES; X-RAYS;

EID: 33644860224     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00559.x     Document Type: Article

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