The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation-Reference-Cited by-同舟云学术

The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation

Published:2000-10 Issue:4 Volume:67 Page:832-840
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Aula Nina,Salomäki Pirjo,Timonen Ritva,Verheijen Frans,Mancini Grazia,Månsson Jan-Eric,Aula Pertti,Peltonen Leena

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference19 articles.

1. Basic local alignment search tool;Altschul;J Mol Biol,1990

2. “Salla disease”: a new lysosomal storage disorder;Aula;Arch Neurol,1979

3. Aula P, Gahl W. Disorders of free sialic acid storage. In: Scriver CR BA, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease. McGraw-Hill, New York (in press)

4. Screening of inherited oligosaccharidurias among mentally retarded patients in northern Finland;Aula;J Ment Defic Res,1986

5. Free sialic acid storage disease: a new Italian case;Fois;Eur J Pediatr,1987

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