Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy. [electronic resource]
Producer: 20160803Description: 13902 p. digitalISSN:- 2045-2322
- Amino Acid Sequence
- Amino Acid Substitution
- Cadherin Related Proteins
- Cadherins -- chemistry
- Case-Control Studies
- Chromosome Mapping
- Consanguinity
- DNA Mutational Analysis
- Electroretinography
- Female
- Fluorescein Angiography
- Genes, Recessive
- Homozygote
- Humans
- Introns
- Male
- Molecular Sequence Data
- Mutation
- Nerve Tissue Proteins -- chemistry
- Pedigree
- RNA Splice Sites
- Retinal Dystrophies -- diagnosis
- Sequence Alignment
- Spain
- White People -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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