Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene

Author:

Kawai Yoko,Moriyama Akihiko,Asai Kiyofumi,Coleman-Campbell Carrie M.,Sumi Satoshi,Morishita Hideko,Suchi Mariko

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference18 articles.

1. Baas F, Bikker H, Ommen E-JB van, Vijlder JJM de (1984) Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene: a linkage study suggesting autosomal dominance of a defective thyroglobulin allele. Hum Genet 67:301?305

2. Ishikawa M (1987) Developmental disorders in histidinemia?follow-up study of language development in histidinemia. Acta Paediatr Jpn 29:224?228

3. Kuroda Y, Watanabe T, Ito M, Toshima K, Miyao M (1982) Altered kinetic properties of skin histidase in two patients with histidinaemia. J Inherit Metab Dis 5:73

4. Levy HL (1988) Disorders of histidine metabolism. In: Scriver CR, Beardet AL, Sly WS, Valle D (eds) Metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 563?576

5. Levy HL, Taylor RG, McInnes RR (1995) Disorders of histidine metabolism. In: Scriver CR, Beardet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 7th edn. McGraw-Hill, New York, pp 1107?1123

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