"US - Spojen\u00E9 st\u00E1ty americk\u00E9" . "Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy" . "[95360EAD032B]" . "0960-8966" . "5"^^ . "Vondr\u00E1\u010Dek, Petr" . . "Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy"@en . . "Fajkus, Ji\u0159\u00ED" . . "14110" . . . ". We performed analysis of point mutations in a set of our patients with suspicion of SMA and without homozygous deletion of the SMN1 gene. A quantitative test determining SMN1 copy number (using real-time PCR and/or MLPA analysis) was performed in 301 patients and only 1 SMN1 copy was detected in 14 of them. When these 14 patients were screened for the presence of point mutations we identified 6 mutations."@en . "SMN1; SMA; point mutation"@en . . . . "Ma\u0159\u00EDkov\u00E1, Ta\u0165\u00E1na" . . . . . . "J\u00FCttnerov\u00E1, V\u011Bra" . "Koz\u00E1k, Libor" . . . . "Gaillyov\u00E1, Renata" . "17" . . . . . "6"^^ . "Zapletalov\u00E1, Eva" . ". We performed analysis of point mutations in a set of our patients with suspicion of SMA and without homozygous deletion of the SMN1 gene. A quantitative test determining SMN1 copy number (using real-time PCR and/or MLPA analysis) was performed in 301 patients and only 1 SMN1 copy was detected in 14 of them. When these 14 patients were screened for the presence of point mutations we identified 6 mutations." . "409515" . "Kalina, Zden\u011Bk" . . "Hedvi\u010D\u00E1kov\u00E1, Petra" . . . . "Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy" . "Neuromuscular Disorders" . "Fajkusov\u00E1, Lenka" . "P(1A8608), P(LC06023), V, Z(MSM0021622415), Z(MZ000064203), Z(MZ0FNM2005)" . "10"^^ . "Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy"@en . . "RIV/00216224:14110/07:00022280!RIV10-MSM-14110___" . "RIV/00216224:14110/07:00022280" . "6" .