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Literature DB >> 2902439

Genetics of classic Alport's syndrome.

F A Flinter¹, J S Cameron, C Chantler, I Houston, M Bobrow.

Abstract

41 families with classic Alport's syndrome (hereditary nephritis with sensorineural deafness) were studied. All their pedigrees were compatible with X-linked inheritance. DNA probes were used to investigate genetic linkage in these families. Linkage to probe S21 (DXS17) was confirmed (LOD score = 4.72 at 0 = 0.06), localising the gene for Alport's syndrome to the middle of Xq; thus the disorder is X-chromosomal in nature.

Entities: Disease Gene

Mesh：

Year: 1988 PMID： 2902439 DOI： 10.1016/s0140-6736(88)90753-2

Source DB: PubMed Journal: Lancet ISSN： 0140-6736 Impact factor: 79.321

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Cited

55 in total

1. The molecular genetics of Alport syndrome: report of two workshops.

Authors: F Flinter; M Bobrow
Journal: J Med Genet Date: 1992-05 Impact factor: 6.318

2. Clinical utility gene card for: Alport syndrome.

Authors: Jens Michael Hertz; Mads Thomassen; Helen Storey; Frances Flinter
Journal: Eur J Hum Genet Date: 2011-12-14 Impact factor: 4.246

Review 3. Alport syndrome, basement membranes and collagen.

Authors: C E Kashtan; M M Kleppel; R J Butkowski; A F Michael; A J Fish
Journal: Pediatr Nephrol Date: 1990-09 Impact factor: 3.714

4. Genotype-phenotype correlation in X-linked Alport syndrome.

Authors: Mir Reza Bekheirnia; Berenice Reed; Martin C Gregory; Kim McFann; Alireza Abdollah Shamshirsaz; Amirali Masoumi; Robert W Schrier
Journal: J Am Soc Nephrol Date: 2010-04-08 Impact factor: 10.121

5. Bifunctional promoter of type IV collagen COL4A5 and COL4A6 genes regulates the expression of alpha5 and alpha6 chains in a distinct cell-specific fashion.

Authors: Malin Sund; Yohei Maeshima; Raghu Kalluri
Journal: Biochem J Date: 2005-05-01 Impact factor: 3.857

Genetics of classic Alport's syndrome.

1. The molecular genetics of Alport syndrome: report of two workshops.

2. Clinical utility gene card for: Alport syndrome.

Review 3. Alport syndrome, basement membranes and collagen.

4. Genotype-phenotype correlation in X-linked Alport syndrome.

5. Bifunctional promoter of type IV collagen COL4A5 and COL4A6 genes regulates the expression of alpha5 and alpha6 chains in a distinct cell-specific fashion.

6. The gene corresponding to the putative Goodpasture antigen is present in Alport's syndrome.

7. Should women who are known or potential carriers of the Alport gene be accepted as kidney donors?

8. Alport syndrome caused by a 5' deletion within the COL4A5 gene.

9. Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.

10. Alport syndrome: a rare cause of uraemia.