Condition: SPHEROCYTOSIS, TYPE 1 (disorder)


rs140085544 in ANK1 gene and SPHEROCYTOSIS, TYPE 1 (disorder) PMID 8640229 1996 Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.

PMID 11102985 2000 Low frequency of ankyrin mutations in hereditary spherocytosis: identification of three novel mutations.

PMID 12899723 2003 Simultaneous (AC)n microsatellite polymorphism analysis and single-stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis.

PMID 17327413 2007 A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis.

rs137852831 in MIR486-1;ANK1 gene and SPHEROCYTOSIS, TYPE 1 (disorder) PMID 9590147 1998 Two distinct truncated variants of ankyrin associated with hereditary spherocytosis.