Detailed Assessment of Renal Function in a Proband with Harboyan Syndrome Caused by a Novel Homozygous SLC4A11 Nonsense Mutation

Ophthalmic Research

Volumn 53, Issue 1, 2015, Pages 30-35

  Liskova, Petra ^a   Dudakova, Lubica ^a   Tesar, Vladimir ^a   Bednarova, Vladimira ^a   Kidorova, Jana ^a   Jirsova, Katerina ^a   Davidson, Alice E ^b   Hardcastle, Alison J ^b  

^a CHARLES UNIVERSITY   (Czech Republic)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Corneal dystrophy; Harboyan syndrome; Kidney function tests; Sensorineural hearing loss; SLC4A11

Indexed keywords

ALBUMIN; CALCIUM; CHLORIDE; CREATININE; PHOSPHATE; POTASSIUM; SODIUM; SOLUTE CARRIER FAMILY 4; SOLUTE CARRIER FAMILY 4 SODIUM BORATE TRANSPORTER MEMBER 11; UNCLASSIFIED DRUG; URIC ACID; ANION TRANSPORT PROTEIN; ANTIPORTER; SLC4A11 PROTEIN, HUMAN; STOP CODON;

ADULT; ARTICLE; AUDIOMETRY; CASE REPORT; CONGENITAL CORNEA DYSTROPHY; CONTROLLED STUDY; CORNEA ENDOTHELIUM; DIFFERENTIAL DIAGNOSIS; EXON; FEMALE; FOLLOW UP; GENETIC ANALYSIS; HARBOYAN SYNDROME; HETEROZYGOTE; HUMAN; KIDNEY FUNCTION; MIDDLE AGED; NONSENSE MUTATION; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SPECULAR MICROSCOPY; UREA NITROGEN BLOOD LEVEL; URINE OSMOLALITY; URINE PH; VISUAL ACUITY; CORNEAL DYSTROPHIES, HEREDITARY; CORNEAL PACHYMETRY; GENETICS; HEARING LOSS, SENSORINEURAL; KIDNEY; KIDNEY FUNCTION TEST; LIVER FUNCTION TEST; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; POLYMERASE CHAIN REACTION; STOP CODON; YOUNG ADULT;

ANION TRANSPORT PROTEINS; ANTIPORTERS; AUDIOMETRY; CODON, NONSENSE; CORNEAL DYSTROPHIES, HEREDITARY; CORNEAL PACHYMETRY; DNA MUTATIONAL ANALYSIS; ENDOTHELIUM, CORNEAL; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; KIDNEY; KIDNEY FUNCTION TESTS; LIVER FUNCTION TESTS; MIDDLE AGED; POLYMERASE CHAIN REACTION; VISUAL ACUITY; YOUNG ADULT;

EID: 84928423971     PISSN: 00303747     EISSN: 14230259     Source Type: Journal    
DOI: 10.1159/000365109     Document Type: Article

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