Severe phenotype in MPS II patients associated with a large deletion including contiguous genes

Author:

Brusius-Facchin Ana Carolina,De Souza Carolina Fischinger Moura,Schwartz Ida Vanessa D.,Riegel Mariluce,Melaragno Maria Isabel,Correia Patrícia,Moraes Lúcia Marques,Llerena Juan,Giugliani Roberto,Leistner-Segal Sandra

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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3. Mucopolysaccharidosis type II - genotype/phenotype aspects;Froissart;Acta Paediatr Suppl,2002

4. Mutation analysis in 20 patients with Hunter disease;Goldenfum;Hum Mutat,1996

5. Segregation of FRAXE in a large family: Clinical, psychometric, cytogenetic, and molecular data;Hamel;Am J Hum Genet,1994

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