Condition: SPHEROCYTOSIS, HEREDITARY, 2
rs121918646 in
SPTB gene and
SPHEROCYTOSIS, HEREDITARY, 2
PMID 19538529 2009 Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA.
PMID 8102379 1993 Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.
PMID 8844207 1996 Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis.
PMID 7883966 1995 Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.
PMID 9714702 1998 Hereditary spherocytosis with spectrin deficiency related to null mutations of the beta-spectrin gene.
PMID 11703334 2001 beta-Spectrin S(ta) Bárbara: a novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism.