β-spectrin Sta Bárbara: A novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism

British Journal of Haematology

Volumn 115, Issue 2, 2001, Pages 347-353

  Bassères, Daniela S ^a   Duarte, Adriana S S ^a   Hassoun, Hani ^b   Costa, Fernando F ^a   Saad, Sara T O ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b ST ELIZABETH'S MEDICAL CENTER   (United States)

Author keywords

Frameshift mutation; Germ cell line mosaicism; Hereditary spherocytosis; Red cells; Spectrin

Indexed keywords

MEMBRANE PROTEIN; MESSENGER RNA; MUTANT PROTEIN; SPECTRIN;

ADULT; ARTICLE; CASE REPORT; CELL LINEAGE; CODON; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA DETERMINATION; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GERM CELL; HEREDITARY SPHEROCYTOSIS; HEREDITY; HUMAN; MOSAICISM; MOTHER; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN DETERMINATION; SIBLING;

ADULT; CELL CULTURE TECHNIQUES; FEMALE; FRAMESHIFT MUTATION; GERM-LINE MUTATION; HUMANS; MALE; MOSAICISM; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SPECTRIN; SPHEROCYTOSIS, HEREDITARY;

EID: 0035724666     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2001.03103.x     Document Type: Article

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