Identification of two new beta-thalassemia splice mutations: IVS-I-1 (G-->C) and IVS-I (-2) (A-->C). 2002

John S Waye, and Lynda Walker, and Margaret Patterson, and David H K Chui
Provincial Hemoglobinopathy DNA Diagnostic Laboratory, Hamilton Regional Laboratory Medicine Program, Ontario, Canada. wayej@mcmail.cis.mcmaster.ca

UI MeSH Term Description Entries
D007558 Italy A country in southern Europe, a peninsula extending into the central Mediterranean Sea, northeast of Tunisia. The capital is Rome. Sardinia
D009864 Ontario A province of Canada lying between the provinces of Manitoba and Quebec. Its capital is Toronto. It takes its name from Lake Ontario which is said to represent the Iroquois oniatariio, beautiful lake. (From Webster's New Geographical Dictionary, 1988, p892 & Room, Brewer's Dictionary of Names, 1992, p391)
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011250 Pregnancy Complications, Hematologic The co-occurrence of pregnancy and a blood disease (HEMATOLOGIC DISEASES) which involves BLOOD CELLS or COAGULATION FACTORS. The hematologic disease may precede or follow FERTILIZATION and it may or may not have a deleterious effect on the pregnant woman or FETUS. Complications, Hematologic Pregnancy,Hematologic Pregnancy Complications,Pregnancy Complications, Hematological,Pregnancy, Hematologic Complications,Complication, Hematologic Pregnancy,Complication, Hematological Pregnancy,Complications, Hematological Pregnancy,Hematologic Pregnancy Complication,Hematological Pregnancy Complication,Hematological Pregnancy Complications,Pregnancies, Hematologic Complications,Pregnancy Complication, Hematologic,Pregnancy Complication, Hematological
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
D004252 DNA Mutational Analysis Biochemical identification of mutational changes in a nucleotide sequence. Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA
D005260 Female Females
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

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