Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s00439-005-0013-0.pdf
Reference31 articles.
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2. Arrondel C, Deschenes G, Le Meur Y, Viau A, Cordonnier C, Fournier A, Amadeo S, Gubler MC, Antignac C, Heidet L (2004) A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia. Kidney Int 65:2030–2040
3. Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K (1990) Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248:1224–1227
4. Barker DF, Denison JC, Atkin CL, Gregory MC (2001) Efficient detection of alport syndrome COL4a5 mutations with multiplex genomic PCR-SSCP. Am J Med Genet 98:148–160
5. Boye E, Vetrie D, Flinter F, Buckle B, Pihlajaniemi T, Hamalainen E-R, Myers JC, Bobrow M, Harris A (1991) Major rearrangements in the a5(IV) collagen gene in three patients with Alport Syndrome. Genomics 11:1125–1132
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