SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the "2+0" genotype.

Ceylan, Ahmet Cevdet; Erdem, Haktan Bagis; Sahin, Ibrahim; Agarwal, Meenal

Ceylan, Ahmet Cevdet; Erdem, Haktan Bagis; Sahin, Ibrahim; Agarwal, Meenal.

Affiliation

Ceylan AC; Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey.
Erdem HB; Department of Medical Genetics, Ankara Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey.
Sahin I; Department of Medical Genetics, Ankara Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey.
Agarwal M; Department of Medical Genetics, GenePath Diagnostics India Private Ltd, Medical Genetics, 1260/B, JM road, Pune, 411004, India. meenal91@gmail.com.

Neurol Sci ; 41(9): 2575-2584, 2020 Sep.

Article in En | MEDLINE | ID: mdl-32249332

Subject(s)

DNA Copy Number Variations; Muscular Atrophy, Spinal; Gene Dosage; Genotype; Humans; Muscular Atrophy, Spinal/diagnosis; Muscular Atrophy, Spinal/genetics; Survival of Motor Neuron 1 Protein/genetics; Survival of Motor Neuron 2 Protein/genetics; Technology

Key words

CODE-SEQ; Genetic screening/counseling; Molecular genetics; NGS; Spinal muscular atrophy

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Muscular Atrophy, Spinal / DNA Copy Number Variations Type of study: Diagnostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Neurol Sci Journal subject: NEUROLOGIA Year: 2020 Type: Article Affiliation country: Turkey

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