Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs...

Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe

Verschuuren-Bemelmans, Corien C, Winter, Pia, Sival, Deborah A, Elting, Jan-Willem, Brouwer, Oebele F, Müller, Ulrich
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Volume:
16
Year:
2008
Language:
english
Pages:
5
DOI:
10.1038/ejhg.2008.108
File:
PDF, 103 KB
english, 2008
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