The molecular genetics of pseudoxanthoma elasticum;Génétique moléculaire du pseudoxanthome élastique

Annales de Dermatologie et de Venereologie

Volumn 128, Issue 8-9, 2001, Pages 943-946

  Le Saux, O ^a   Martin, L ^b  

^a UNIVERSITY OF HAWAII   (United States)

^b Hôpital Porte Madeleine   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; CELL MEMBRANE PROTEIN; PROTEIN ABCC6; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 16P; GENE ASSIGNMENT; GENE ISOLATION; GENE LOCUS; HUMAN; MOLECULAR BIOLOGY; PSEUDOXANTHOMA ELASTICUM;

HUMANS; PSEUDOXANTHOMA ELASTICUM;

EID: 0034789709     PISSN: 01519638     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

1. Recherches sur les caractères anatomiques du xanthelasma
2. Le pseudo-xanthoma élastique
3. Choroidal and retinal changes the result of blows on the eye
4. Angioid streaks: Pseudoxanthoma elasticum: Vorloeufige mitteilung
5. Pseudoxanthoma elasticum
6. Cardiac involvement in pseudoxanthoma elasticum. Report of a case
7. Ultrastructural changes of elastic fibers in pseudoxanthoma elasticum. A study of histogenesis
8. The genetics of pseudoxanthoma elasticum
9. Two types of autosomal recessive pseudoxanthoma elasticum
10. Autosomal dominant pseudoxanthoma elasticum
11. Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum
12. Pseudoxanthoma elasticum
13. International Centennial Meeting on Pseudoxanthoma Elasticum: Progress in PXE research
14. Pseudoxanthoma elasticum
15. A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance oF vascular symptoms in carriers, maps to chromosome 16p13.1
16. Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1
17. Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region oF chromosome 16
18. A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: High-resolution mapping and genomic structure
19. Mutations in ABCC6 cause pseudoxanthoma elasticum
20. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
21. Pseudoxanthoma elasticum: Mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter
22. Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum
23. Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing
24. Compound heterozygosity for a recurrent 16.5-kb alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum
25. Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: Mutations in the type VII collagen and kalinin (laminin 5) genes
26. Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE)