Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation-Reference-Cited by-同舟云学术

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Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation

Published:2008-09-11 Issue:4 Volume:74 Page:349-357
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Biffi A,Cesani M,Fumagalli F,Carro U Del,Baldoli C,Canale S,Gerevini S,Amadio S,Falautano M,Rovelli A,Comi G,Roncarolo MG,Sessa M

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2008.01058.x/fullpdf

Reference44 articles.

1. Diseases of the Nervous System in Childhood

2. Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease;Holtschmidt;J Biol Chem,1991

3. Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site;Gieselmann;Proc Natl Acad Sci U S A,1989

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