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A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish gypsy families

AuthorsCotarelo, R. P.; Fano, O. ; Raducu, Madalina; Peña, A.; Cruces, Jesús
Issue Date2009
CitationClinical Genetics 76(1): 108-112 (2009)
DescriptionCarta al editor.-- El pdf es la versión post-print sin figuras.-- et al.
Publisher version (URL)http://dx.doi.org/10.1111/j.1399-0004.2009.01188.x
Identifiersdoi: 10.1111/j.1399-0004.2009.01188.x
issn: 0009-9163
e-issn: 1399-0004
Appears in Collections:(IIBM) Artículos
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