A double homozygous mutation in the POMT1 gene involving...

Clinical Genetics 2009 Vol. 76; Iss. 1

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

RP Cotarelo, O Fano, M Raducu, A Peña, P Tarilonte, F Mateos, R Simón, A Cabello, J Cruces
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Volume:
76
Year:
2009
Language:
english
Pages:
5
DOI:
10.1111/j.1399-0004.2009.01188.x
File:
PDF, 703 KB
english, 2009
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