BIOMAT Database Logo BIOMAT Database Logo

Another example of the beta-thalassemia mutation, IVS-I (-2) or codon 30 (A-->G), found in a Chinese family. 1998

W Li, and Y Hattori, and Y Ohba, and N Okayama, and W S Lin, and G F Long, and Y Yamashiro, and K Yamamoto, and K Yamamoto
Department of Clinical Laboratory Science, Yamaguchi University School of Medicine, Ube, Japan.

UI MeSH Term Description Entries
D008297 Male Males
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002681 China A country spanning from central Asia to the Pacific Ocean. Inner Mongolia,Manchuria,People's Republic of China,Sinkiang,Mainland China
D003062 Codon A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE). Codon, Sense,Sense Codon,Codons,Codons, Sense,Sense Codons
D005260 Female Females
D005914 Globins A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure. Globin
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

Related Publications

W Li, and Y Hattori, and Y Ohba, and N Okayama, and W S Lin, and G F Long, and Y Yamashiro, and K Yamamoto, and K Yamamoto
Novel beta-thalassemia mutation in patients of Jewish descent: [beta 30(B12)Arg-->Gly or IVS-I(-2)(A-->G)].
January 1998, Hemoglobin,
W Li, and Y Hattori, and Y Ohba, and N Okayama, and W S Lin, and G F Long, and Y Yamashiro, and K Yamamoto, and K Yamamoto
The codon 37 (TGG-->TAG) beta(0)-thalassemia mutation found in a Chinese family.
January 2006, Hemoglobin,
W Li, and Y Hattori, and Y Ohba, and N Okayama, and W S Lin, and G F Long, and Y Yamashiro, and K Yamamoto, and K Yamamoto
A Novel β-Thalassemia Mutation [IVS-I-6 (T>G), HBB: c.92+6T>G] in a Chinese Family.
January 2020, Hemoglobin,
W Li, and Y Hattori, and Y Ohba, and N Okayama, and W S Lin, and G F Long, and Y Yamashiro, and K Yamamoto, and K Yamamoto
Beta-thalassemia with the IVS-I-1 (G-->T) mutation in a Japanese girl.
April 1995, Acta paediatrica Japonica : Overseas edition,
W Li, and Y Hattori, and Y Ohba, and N Okayama, and W S Lin, and G F Long, and Y Yamashiro, and K Yamamoto, and K Yamamoto
Beta 0-thalassemia trait (IVS-I-1 G-->T) in a Japanese family.
November 1993, Internal medicine (Tokyo, Japan),
W Li, and Y Hattori, and Y Ohba, and N Okayama, and W S Lin, and G F Long, and Y Yamashiro, and K Yamamoto, and K Yamamoto
Novel beta-thalassemia trait (IVS I-1 G-->C) in a Japanese family.
January 2003, American journal of hematology,
W Li, and Y Hattori, and Y Ohba, and N Okayama, and W S Lin, and G F Long, and Y Yamashiro, and K Yamamoto, and K Yamamoto
A common Chinese beta-thalassemia mutation found in a Japanese family.
April 1990, Human genetics,
W Li, and Y Hattori, and Y Ohba, and N Okayama, and W S Lin, and G F Long, and Y Yamashiro, and K Yamamoto, and K Yamamoto
A novel beta-thalassemia mutation [IVS-II-5 (G-->C)] in a Chinese family from Guangxi Province, P.R. China.
December 1993, Hemoglobin,
W Li, and Y Hattori, and Y Ohba, and N Okayama, and W S Lin, and G F Long, and Y Yamashiro, and K Yamamoto, and K Yamamoto
A rare mutation [IVS-I-130 (G-A)] in a Turkish beta-thalassemia major patient.
April 2000, American journal of hematology,
W Li, and Y Hattori, and Y Ohba, and N Okayama, and W S Lin, and G F Long, and Y Yamashiro, and K Yamamoto, and K Yamamoto
A new mutation in the beta-globin gene (IVS II-850 G-C) found in a Yugoslavian beta-thalassemia heterozygote.
January 1992, Haematologica,
Copied contents to your clipboard!