Genomic Variation and Gene Conversion in Spinal Muscular Atrophy: Implications for Disease Process and Clinical Phenotype-Reference-Cited by-同舟云学术

Genomic Variation and Gene Conversion in Spinal Muscular Atrophy: Implications for Disease Process and Clinical Phenotype

Published:1997-07 Issue:1 Volume:61 Page:40-50
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Campbell Louise,Potter Allyson,Ignatius Jaakko,Dubowitz Victor,Davies Kay

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference49 articles.

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2. Genetic mapping of chronic childhood-onset spinal muscular atrophy to 5q11.2-13.3;Brzustowicz;Nature,1990

3. The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffman disease;Bürglen;Am J Hum Genet,1997

4. Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease;Burlet;J Med Genet,1996

5. A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients;Bussaglia;Nat Genet,1995

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