Disease manifestations and X inactivation in heterozygous females with Fabry disease

Author:

Maier Esther,Osterrieder Stephanie,Whybra Catharina,Ries Markus,Gal Andreas,Beck Michael,Roscher Adelbert,Muntau Ania

Publisher

Wiley

Subject

General Medicine,Pediatrics, Perinatology, and Child Health

Reference47 articles.

1. DesnickRJ, IoannouYA, EngCM. α-Galactosidase A deficiency: Fabry disease. In: ScriverCR, BeaudetAL, SlyWS, ValleD, editors. The metabolic and molecular bases of inherited disease . 8th edn. New York: McGraw-Hill, 2001:p. 3733–74

2. www.uwcm.ac.uk/uwcm/mg/hgmd0.html

3. Carrel, L and Cottle, AA and Goglin, KC and Willard, HF. (1999) A first-generation X-inactivation profile of the human X chromosome Proc Natl Acad Sci USA, 96, pp. 14440 - 4.

4. Puck, JM and Willard, HF. (1998) X inactivation in females with X-linked disease N Engl J Med, 338, pp. 325 - 8.

5. Dobyns, WB. (2006) The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked Acta Paediatr, 95(Suppl 451), pp. 11 - 15.

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