Boning up on mutations: Assessing the significance of candidate disease-causing DNA sequence variation

Genetics and Molecular Research

Volumn 10, Issue 3, 2011, Pages 1518-1521

  Dalgleish, R ^a  

^a UNIVERSITY OF LEICESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

AMINO ACID SEQUENCE; CODON; COL1A1 GENE; COL1A2 GENE; CRTAP GENE; DNA SEQUENCE; ENHANCER REGION; EXON; FKBP10 GENE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; HUMAN; INTRON; LEPRE1 GENE; LETTER; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; OSTEOGENESIS IMPERFECTA; PLOD2 GENE; PPIB GENE; SEQUENCE ALIGNMENT; SERPINF1 GENE; SERPINH1 GENE; SP7 GENE;

COLLAGEN TYPE I; FEMALE; HUMANS; MALE; OSTEOGENESIS IMPERFECTA;

EID: 80955168094     PISSN: None     EISSN: 16765680     Source Type: Journal    
DOI: 10.4238/vol10-3gmr1353     Document Type: Letter

References (6)

1. Cartegni L, Wang J, Zhu Z, Zhang MQ, et al. (2003). ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res. 31: 3568-3571.
2. Dalgleish R, Flicek P, Cunningham F, Astashyn A, et al. (2010). Locus reference genomic sequences: an improved basis for describing human DNA variants. Genome Med. 2: 24.
3. Dogan RI, Getoor L, Wilbur WJ and Mount SM (2007). SplicePort - an interactive splice-site analysis tool. Nucleic Acids Res. 35: W285-W291.
4. Lin S and Fu XD (2007). SR proteins and related factors in alternative splicing. Adv. Exp. Med. Biol. 623: 107-122.
5. Sherry ST, Ward MH, Kholodov M, Baker J, et al. (2001). dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 29: 308-311.
6. Yang Z, Ke ZF, Zeng C, Wang Z, et al. (2011). Mutation characteristics in type I collagen genes in Chinese patients with osteogenesis imperfecta. Genet. Mol. Res. 10: 177-185.