Gitelman syndrome due to p.A204T mutation in CLCNKB gene

International Urology and Nephrology

Volumn 42, Issue 4, 2010, Pages 1099-1102

  Enriquez R ^a   Adam, V ^b   Sirvent, A E ^a   Garcia Garcia A B ^b   Millan I ^a   Amoros F ^a  

^a HOSPITAL GENERAL UNIVERSITARIO DE ELCHE   (Spain)

^b Instituto Universitario IVI INCLIVA   (Spain)

Author keywords

Bartter syndrome; CLCNKB gene; Gitelman syndrome; Hypokalaemia; p.A204T mutation

Indexed keywords

CHLORIDE CHANNEL; CHLORIDE CHANNEL KB; GLUCOSE TRANSPORTER 3; POTASSIUM; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BARTTER SYNDROME; CASE REPORT; DECREASED APPETITE; DIARRHEA; FATIGUE; FEMALE; FOUNDER EFFECT; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GITELMAN SYNDROME; HOMOZYGOSITY; HUMAN; HYPOCALCIURIA; HYPOKALEMIA; HYPOMAGNESEMIA; LABORATORY TEST; METABOLIC ACIDOSIS; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; VOMITING;

CHLORIDE CHANNELS; FEMALE; GITELMAN SYNDROME; HUMANS; MIDDLE AGED; MUTATION;

EID: 78751649118     PISSN: 03011623     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11255-010-9850-4     Document Type: Article

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