Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases

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Journal

Molecular Genetics and Metabolism

Molecular Genetics and Metabolism 105 (2), 270-271, 2012-02

Elsevier BV

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CRID

1364233268313684992
DOI

10.1016/j.ymgme.2011.10.019
ISSN

10967192
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https://api.elsevier.com/content/article/PII:S109671921100388X?httpAccept=text/xml

https://api.elsevier.com/content/article/PII:S109671921100388X?httpAccept=text/plain
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