De Novo Rearrangements Found in 2% of Index Patients with Spinal Muscular Atrophy: Mutational Mechanisms, Parental Origin, Mutation Rate, and Implications for Genetic Counseling

Author:

Wirth Brunhilde,Schmidt Thorsten,Hahnen Eric,Rudnik-Schöneborn Sabine,Krawczak Michael,Müller-Myhsok Bertram,Schönling Jutta,Zerres Klaus

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference47 articles.

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

4. When is a deletion not a deletion? When it is converted;Burghes;Am J Hum Genet,1997

5. A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene;Burghes;Genomics,1994

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