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Titel:

Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer.

Dokumenttyp:
Journal Article; Review
Autor(en):
Eber, S; Lux, SE
Abstract:
The molecular causes of hereditary spherocytosis (HS) have been unraveled in the past decade. No frequent defect is found, and nearly every family has a unique mutation. In dominant HS, nonsense and frameshift mutations of ankyrin, band 3, and beta-spectrin predominate. Recessive HS is most often due to compound heterozygosity of defects in ankyrin, alpha-spectrin, or protein 4.2. Common combinations include a defect in the promoter or 5'-untranslated region of ankyrin paired with a missense mut...     »
Zeitschriftentitel:
Semin Hematol
Jahr:
2004
Band / Volume:
41
Heft / Issue:
2
Seitenangaben Beitrag:
118-41
Sprache:
eng
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/15071790
Print-ISSN:
0037-1963
TUM Einrichtung:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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