Deutsch
 
Hilfe Datenschutzhinweis Impressum
  DetailsucheBrowse

Datensatz

DATENSATZ AKTIONENEXPORT
  Fine mapping of the Schnyder's crystalline corneal dystrophy locus

Theendakara, V., Tromp, G., Kuivaniem, H., White, P. S., Panchal, S., Cox, J., et al. (2004). Fine mapping of the Schnyder's crystalline corneal dystrophy locus. Human Genetics, 114(6), 594-600. doi:10.1007/s00439-004-1110-1.

Item is

Basisdaten

einblenden: ausblenden:
Genre: Zeitschriftenartikel
Alternativer Titel : Hum. Genet.

Externe Referenzen

einblenden:

Urheber

einblenden:
ausblenden:
 Urheber:
Theendakara, Veena, Autor
Tromp, Gerard, Autor
Kuivaniem, Helena, Autor
White, Peter S., Autor
Panchal, Seema, Autor
Cox, Jennifer, Autor
Winters, R. Scott, Autor
Riebeling, Petra, Autor
Tost, Frank, Autor
Hoeltzenbein, Maria1, Autor
Tervo, Timo M., Autor
Henn, Wolfram, Autor
Denniger, Elke, Autor
Krause, Matthias, Autor
Koksal, Murat, Autor
Kargi, Sebnem, Autor
Ugurbas, Suat H., Autor
Latvala, Terho, Autor
Shearman, Amanda M., Autor
Weiss, Jayne S., Autor
Affiliations:
1Max Planck Society, ou_persistent13              

Inhalt

einblenden:
ausblenden:
Schlagwörter: -
 Zusammenfassung: Schnyderrsquos crystalline corneal dystrophy (SCCD) is a rare autosomal dominant eye disease with a spectrum of clinical manifestations that may include bilateral corneal clouding, arcus lipoides, and anterior corneal crystalline cholesterol deposition. We have previously performed a genome-wide linkage analysis on two large Swede-Finn families and mapped the SCCD locus to a 16-cM interval between markers D1S2633 and D1S228 on chromosome 1p36. We have collected 11 additional families from Finland, Germany, Turkey, and USA to narrow the critical region for SCCD. Here, we have used haplotype analysis with densely spaced microsatellite markers in a total of 13 families to refine the candidate interval. A common disease haplotype was observed among the four Swede-Finn families indicating the presence of a founder effect. Recombination results from all 13 families refined the SCCD locus to 2.32 Mbp between markers D1S1160 and D1S1635. Within this interval, identity-by-state was present in all 13 families for two markers D1S244 and D1S3153, further refining the candidate region to 1.58 Mbp.

Details

einblenden:
ausblenden:
Sprache(n): eng - English
 Datum: 2004-03-19
 Publikationsstatus: Erschienen
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Identifikatoren: eDoc: 225657
DOI: 10.1007/s00439-004-1110-1
 Art des Abschluß: -

Veranstaltung

einblenden:

Entscheidung

einblenden:

Projektinformation

einblenden:

Quelle 1

einblenden:
ausblenden:
Titel: Human Genetics
  Alternativer Titel : Hum. Genet.
Genre der Quelle: Zeitschrift
 Urheber:
Affiliations:
Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 114 (6) Artikelnummer: - Start- / Endseite: 594 - 600 Identifikator: ISSN: 0340-6717