Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders

Human Molecular Genetics

Volumn 6, Issue 8, 1997, Pages 1233-1239

  Lloyd, Sarah E ^a   Günther, Willy ^b   Pearce, Simon H S ^a   Thomson, Amelia ^a   Bianchi, Maria L ^c   Bosio, Maurizio ^d   Craig, Lan W ^e   Fisher, Simon E ^e   Scheinman, Steven J ^f   Wrong, Oliver ^g   Jentsch, Thomas J ^b   Thakker, Rajesh V ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^d Magenta Hospital   (Italy)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f State University of New York Upstate Medical University: College of Medicine   (United States)

^g MIDDLESEX HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE CHANNEL; CHLORIDE ION; MEMBRANE PROTEIN;

AMINO TERMINAL SEQUENCE; ARTICLE; CHLORIDE CURRENT; CHROMOSOME XP; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE INSERTION; GENE MUTATION; HUMAN; HUMAN CELL; HYPERCALCIURIA; KIDNEY; MALE; MISSENSE MUTATION; NEPHROLITHIASIS; NONSENSE MUTATION; OOCYTE; PRIORITY JOURNAL; STRUCTURE ACTIVITY RELATION; XENOPUS;

ADULT; AMINO ACID SEQUENCE; ANIMALS; CHILD, PRESCHOOL; CHLORIDE CHANNELS; FEMALE; HUMANS; INFANT; KIDNEY CALCULI; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEPHROCALCINOSIS; XENOPUS LAEVIS;

EID: 8544254724     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.8.1233     Document Type: Article

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