When Is a Deletion Not a Deletion? When It Is Converted-Reference-Cited by-同舟云学术

When Is a Deletion Not a Deletion? When It Is Converted

Published:1997-07 Issue:1 Volume:61 Page:9-15
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Burghes Arthur H.M.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference49 articles.

1. Atrophia musculorum spinalis pseudomyo-pathical: hereditäre neurogene proximale Amyotrophie von Kugelberg und Welander;Becker;Z Menschliche Verebungsforsch-u-Konstitutionslehre,1964

2. Krameshift mutation in the survival motor neuron gene in a severe case of SMA type I;Brahe;Hum Mol Genet,1996

3. Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis;Brahe;Hum Genet,1994

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

5. Linkage mapping of the spinal muscular atrophy gene;Burghes;Hum Genet,1994

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