"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports". [electronic resource]
Producer: 20171019Description: 114 p. digitalISSN:- 1471-2350
- Adrenergic beta-Antagonists -- therapeutic use
- Child, Preschool
- Electrocardiography
- Female
- Hearing Loss, Sensorineural -- congenital
- Heterozygote
- High-Throughput Nucleotide Sequencing -- methods
- Homeobox Protein Nkx-2.5 -- genetics
- Homozygote
- Humans
- Infant
- Jervell-Lange Nielsen Syndrome -- diagnosis
- KCNQ1 Potassium Channel -- genetics
- Male
- Pedigree
- Polymorphism, Single Nucleotide
- Potassium Channels, Voltage-Gated -- genetics
- Ryanodine Receptor Calcium Release Channel -- genetics
- Sequence Analysis, DNA -- methods
- Turkey
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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