Download Advances in Human Genetics 1 by James D. Goldberg, Mitchell S. Golbus (auth.), Harry Harris, PDF

By James D. Goldberg, Mitchell S. Golbus (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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5 kb, exons 23-25 Deletion 6 kb, exon 22 Deletion exons 23-26 Deletion -15 kb, exons 15-18 Deletion exons 14-22 Deletion >210 kb, exons 1-26 Point mutations: CGA-TGA, nonsense codon 1960, exon 18 CGA-TGA, nonsense codon 2326, exon 26 CGA-CAA, Arg-G1n, codon 2326, exon 26 CGA-TGA, nonsense codon 2135, exon 22 CGA-TGA, nonsense codon 2228, exon 24 CGA-TGA nonsense codon 2166, exon 23 Mutation Severity of hemophilia A Yes No No No Yes Yes No Yes Yes No No No No No No Yes Yes Yes Reference Antonarakis et al.

Antonarakis serine protease superfamily reveals interesting evolutionary examples of exon shuffling and intron insertion and loss. Mutations in the Factor IX Gene in Hemophilia B As with factor VIII deficiency, hemophilia B is heterogeneous and patients can be subdivided into three classes: those with immunologically detectable but reduced levels of factor IX (crm + R), those with no detectable factor IX (crm -), and those with normal concentrations of factor IX antigen in their plasma (crm +).

1984b) • MPS, Mucopolysaccharidosis. b See footnote to Table I. TABLE V. Disorders of the Urea Cycle Constituents Disorder Prenatal diagnosis· Reference Argininosuccinic acidemia Citrullinemia Feasible Made Vimal et al. (1984) Kleijer et al. (1984c) • See footnote to Table I. 14 James D. Goldberg and Mitchell S. Golbus TABLE VI. Disorders of Propionate and Methylmalonate Metabolism Prenatal diagnosis a Disorder Propionic acidemia 3-Methylcrotonylglycinuria Methylmalonic acidemia Pyruvate carboxylase deficiency MUltiple carboxylase deficiency 4-Hydroxybutyric aciduria 4-Amino-butyric acid aminotransferase deficiency a Feasible Feasible Feasible Feasible Feasible Feasible Feasible Reference Sweetman et al.

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