Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations by Fernandez-Valero E M, Ballart A, Iturriaga C, Lluch M, Macias J, Vanier M T, Pineda M, Coll M J in Clinical genetics (2005).

[PMID: 16098014] PubMed

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