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Compound heterozygosity for two novel mutations in the erythrocyte protein 4.2 gene causing spherocytosis in a Caucasian patient
Author(s) -
Hammill Adrienne M.,
Risinger Mary A.,
Joiner Clinton H.,
Keddache Mehdi,
Kalfa Theodosia A.
Publication year - 2011
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2010.08516.x
Subject(s) - hereditary spherocytosis , band 3 , ankyrin , compound heterozygosity , frameshift mutation , biology , spectrin , loss of heterozygosity , genetics , spherocytosis , microbiology and biotechnology , ankyrin repeat , missense mutation , exon , mutation , membrane protein , gene , immunology , cytoskeleton , allele , splenectomy , spleen , membrane , cell