Stop codon in exon 30 (E2069X) of β-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya

Human Mutation

Volumn 8, Issue 4, 1996, Pages 366-368

  Maillet, Philippe ^a   Inoue, Takafumi ^b   Kanzaki, Akio ^b   Yawata, Ayumi ^b   Kato, Koji ^c   Baklouti, Faouzi ^a   Delaunay, Jean ^a   Yawata, Yoshihito ^b  

^a INSTITUT PASTEUR   (France)

^b KAWASAKI MEDICAL SCHOOL   (Japan)

^c JAPANESE RED CROSS NAGOYA FIRST HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

SPECTRIN;

ARTICLE; DNA SEQUENCE; EXON; HEREDITARY ELLIPTOCYTOSIS; HUMAN; PATERNITY; PRIORITY JOURNAL; SCANNING ELECTRON MICROSCOPY; SEQUENCE ANALYSIS; STOP CODON;

CHILD, PRESCHOOL; CODON; DNA PRIMERS; ELLIPTOCYTOSIS, HEREDITARY; ERYTHROCYTES; EXONS; HUMANS; MALE; PATERNITY; POINT MUTATION; POLYMERASE CHAIN REACTION; SPECTRIN; VARIATION (GENETICS);

EID: 0029848696     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:4<366::AID-HUMU11>3.0.CO;2-0     Document Type: Article

References (14)

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10. i/74 mutations in hereditary elliptocytosis: Fur-ther support for a triple-stranded folding unit model of the spectrin heterodimer contact site. Blood 84:303-308.
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