Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome

American Journal of Human Genetics

Volumn 59, Issue 6, 1996, Pages 1221-1232

  Knebelmann, Bertrand ^b   Breillat, Christelle ^b   Forestier, Lionel ^b   Arrondel, Christelle ^b   Jacassier, Delphine ^b   Giatras, Ioannis ^b   Drouot, Laurent ^b   Deschênes, Georges ^b   Grünfeld, Jean Pierre ^b   Broyer, Michel ^b   Gubler, Marie Claire ^b   Antignac, Corinne ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COLLAGEN TYPE 4; DNA; GLYCINE; GUANINE; MESSENGER RNA; RNA;

ALLELE; ALPORT SYNDROME; ARTICLE; CHROMOSOME XQ; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GLOMERULUS BASEMENT MEMBRANE; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; ALTERNATIVE SPLICING; COLLAGEN; DNA PRIMERS; FEMALE; FRAMESHIFT MUTATION; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; NEPHRITIS, HEREDITARY; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA; X CHROMOSOME;

GLOMERULUS;

EID: 19244363372     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Antignac C, Knebelmann B, Drouot L, Gros F, Deschenes G, Hors-Cayla MC, Zhou J, et al (1994) Deletions in the COL4A5 collagen gene in X-linked Alport syndrome: characterization of the pathological transcripts in nonrenal cells and correlation with disease expression. J Clin Invest 93: 1195-1207
2. Atkin CL, Gregory MC, Border WA (1988) Alport syndrome. In: Schrier RW, Gottschalk CW (eds) Diseases of the kidney, 4th ed. Little Brown, Boston, pp 617-641
3. Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, et al (1990) Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248:1224-1227
4. Barker DF, Pruchno CJ, Jiang X, Atkin CL, Stone EM, Denison JC, Fain PR, et al (1996) A mutation causing Alport syndrome with tardive hearing loss is common in the western United States. Am J Hum Genet 58:1157-1165
5. Beaudet AL, Tsui LC (1993) A suggested nomenclature for designating mutations. Hum Mutat 2:245-248