A second family with XLRH displays the mutation S244L in the CLCN5 gene

Human Genetics

Volumn 99, Issue 6, 1997, Pages 781-784

  Oudet, Claudine ^a   Martin Coignard, Dominique ^b   Pannetier, Solange ^a   Praud, Elisabeth ^b   Champion, Gérard ^c   Hanauer, André ^a  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b CENTRE HOSPITALIER DU MANS   (France)

^c UNIVERSITÉ D'ANGERS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE CHANNEL;

ARTICLE; CASE REPORT; CHROMOSOME XP; CONTROLLED STUDY; EXON; FEMALE; GENE MUTATION; HUMAN; KIDNEY CALCIFICATION; MALE; MISSENSE MUTATION; NEPHROLITHIASIS; PHENOTYPE; PRIORITY JOURNAL; VITAMIN D RESISTANT RICKETS; X CHROMOSOME LINKAGE;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHLORIDE CHANNELS; CHROMOSOME MAPPING; FEMALE; HUMANS; HYPOPHOSPHATEMIA, FAMILIAL; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0030956065     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050448     Document Type: Article

References (7)

1. Bolino A, Devoto M, Enia G, Zoccali C, Weissenbach J, Romeo G (1993) Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets. Eur J Hum Genet 1:269-279
2. Cooper D, Krawczack M (1990) The mutational spectrum of single base-pair substitutions causing human genetic diseases: patterns and predictions. Hum Genet 85:55-74
3. Enia G, Zoccali C, Bolino A, Romeo G (1992) New X-linked hypophosphataemic rickets with hypercalciuria leading to progressive renal failure (abstract). Nephrol Dial Transplant 7: 757-758
4. Fisher S, Black G, Lloyd SE, Hatchwell E, Wrong O, Thakker R, Craig I (1994) Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis). Hum Mol Genet 3:2053-2059
5. Fisher S, Van Bakel I, Lloyd S, Pearce S, Thakker R, Craig I (1995) Cloning and charactereization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). Genomics 29:598-606
6. Lloyd S, Pearce S, Fisher S, Steinmeyer K, Schwappach B, Scheinman S, Harding B, Bolino A, Devoto M, Goodyer P, Rigden S, Wrong O, Jentsch TJ, Craig IW, Thakker R (1996) A common molecular basis for three inherited kidney stone diseases. Nature 379:445-449
7. Nelson D, Balabio A, Cremers, F, Monaco A, Schlessinger D (1995) Report of the 6th International Workshop on X Chromosome Mapping 1995. Cytogenet Cell Genet 71:308-336