Proximal renal tubular acidosis and ocular pathology: A novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1)

Molecular Vision

Volumn 12, Issue , 2006, Pages 324-330

  Demirci, F Yesim K ^a,b   Chang, Min Hwang ^c   Mah, Tammy S ^a   Romero, Michael F ^c   Gorin, Michael B ^a,b  

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^c CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; AMILORIDE; BICARBONATE; BICARBONATE SODIUM COTRANSPORTER; CHLOROTHIAZIDE; CITRATE POTASSIUM; EDETIC ACID; LEUCINE; NIFEDIPINE; PHENYTOIN; POTASSIUM SPARING DIURETIC AGENT; PROLINE; PROPRANOLOL; RNA;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ATAXIA; CASE REPORT; CATARACT; CHELATION THERAPY; DIET RESTRICTION; DNA FLANKING REGION; ENAMEL HYPOPLASIA; EXON; EYE DISEASE; GENE SEQUENCE; HEMIPARESIS; HOMOZYGOSITY; HUMAN; HYPOTHYROIDISM; INTRON; KERATOPATHY; KIDNEY PROXIMAL TUBULE; KIDNEY TUBULE ACIDOSIS; MALE; MIGRAINE; MISSENSE MUTATION; MUTANT; NUCLEOTIDE SEQUENCE; OPEN ANGLE GLAUCOMA; PATHOPHYSIOLOGY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN TRANSPORT; SHORT STATURE; TRABECULECTOMY; VISUAL SYSTEM EXAMINATION; WILD TYPE; XENOPUS;

ACIDOSIS, RENAL TUBULAR; ADULT; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BIOLOGICAL TRANSPORT; CELL MEMBRANE; EYE DISEASES; HOMOZYGOTE; HUMANS; LEUCINE; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OOCYTES; PROLINE; SODIUM-BICARBONATE SYMPORTERS; XENOPUS;

EID: 33645704166     PISSN: 10900535     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

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