Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria

Author:

Bishop David F.,Tchaikovskii Vassili,Nazarenko Irina,Desnick Robert J.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine

Reference21 articles.

1. Whatley SD, et al. (2008) C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Am. J. Hum. Genet. 83:408–14.

2. Anderson KE, Sassa S, Bishop DF, Desnick RJ. (2001) Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In: The Metabolic and Molecular Bases of Inherited Disease. Scriver CR, et al. (eds.) McGraw-Hill, New York, pp. 2991–3062.

3. Magnus IA, Jarrett A, Prankerd TA, Rimington C. (1961) Erythropoietic protoporphyria: a new porphyria syndrome with solar urticaria due to protoporphyrinaemia. Lancet 2:448–51.

4. Bonkowsky HL, Bloomer JR, Ebert PS, Mahoney MJ. (1975) Heme synthetase deficiency in human protoporphyria: demonstration of the defect in liver and cultured skin fibroblasts. J. Clin. Invest. 56:1139–48.

5. Anderson KE. (2008) The porphyrias. In: Cecil Medicine. Goldman L, Ausiello D (eds.) Saunders, Philadelphia, pp. 1585–93.

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