A new krüppel-like factor 1 mutation (c.947G>A or p.C316Y) in humans causes β-thalassemia minor

Hemoglobin

Volumn 39, Issue 2, 2015, Pages 121-126

  Nitta, Takenori ^a   Kawano, Fumio ^b   Yamashiro, Yasuhiro ^a   Takagi, Fumiya ^c   Murata, Tomoaki ^d   Tanaka, Tatehiko ^a   Ferania, Mella ^a   Adhiyanto, Chris ^e   Hattori, Yukio ^f  

^a YAMAGUCHI UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b NATIONAL HOSPITAL ORGANIZATION KUMAMOTO MEDICAL CENTER   (Japan)

^c NATIONAL HOSPITAL ORGANIZATION FUKUYAMA MEDICAL CENTER   (Japan)

^d YAMAGUCHI UNIVERSITY   (Japan)

^e SYARIF HIDAYATULLAH STATE ISLAMIC UNIVERSITY   (Indonesia)

^f Saiseikai Yamaguchi General Hospital   (Japan)

Author keywords

Kr ppel Like Factor 1 (KLF1); Next generation sequencing; Globin expression; thalassemia ( thal)

Indexed keywords

COMPLEMENTARY DNA; ERYTHROID KRUPPEL LIKE FACTOR; HEMOGLOBIN A2; HEMOGLOBIN F; RNA; CODON; ERYTHROID KRUPPEL-LIKE FACTOR; KRUPPEL LIKE FACTOR; ZINC FINGER PROTEIN;

ADULT; ARTICLE; BETA THALASSEMIA; CASE REPORT; DNA DETERMINATION; ERYTHROCYTOSIS; EXOME; GENE AMPLIFICATION; GENOME ANALYSIS; HEMOGLOBIN BLOOD LEVEL; HUMAN; JAPANESE (PEOPLE); MALE; MICROCYTIC ANEMIA; MISSENSE MUTATION; NEXT GENERATION SEQUENCING; PATHOGENESIS; POLYMERASE CHAIN REACTION; RNA ANALYSIS; SEQUENCE ANALYSIS; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BETA-THALASSEMIA; CHEMISTRY; CODON; GENE EXPRESSION; GENE LOCUS; GENE ORDER; GENETICS; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; JAPAN; MUTATION; PHENOTYPE; PROMOTER REGION; REPORTER GENE;

ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BETA-THALASSEMIA; CODON; DNA, COMPLEMENTARY; EXOME; GENE EXPRESSION; GENE ORDER; GENES, REPORTER; GENETIC LOCI; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; JAPAN; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MALE; MUTATION; MUTATION, MISSENSE; PHENOTYPE; PROMOTER REGIONS, GENETIC; ZINC FINGERS;

EID: 84928548853     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630269.2015.1008702     Document Type: Article

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