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Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: Identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis
Roseli Maria Zechi-Ceide, Nélio Alessando Jesus Oliveira, Maria Leine Guion-Almeida, Luís Fernando B.B. Antunes, Antonio Richieri-Costa, Maria Rita Santos Passos-BuenoVolume:
51
Year:
2008
Language:
english
Pages:
197
DOI:
10.1016/j.ejmg.2007.12.008
File:
PDF, 264 KB
english, 2008