Works matching IS 10597794 AND DT 2007 AND VI 28 AND IP 6
Results: 14
Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations.
- Published in:
- 2007
- By:
- Publication type:
- Other
Highly sensitive DNA detection and point mutation identification: an electrochemical approach based on the combined use of ligase and reverse molecular beacon.
- Published in:
- Human Mutation, 2007, v. 28, n. 6, p. 630, doi. 10.1002/humu.20487
- By:
- Publication type:
- Article
Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms.
- Published in:
- Human Mutation, 2007, v. 28, n. 6, p. 639, doi. 10.1002/humu.9497
- By:
- Publication type:
- Article
Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice-site disruption.
- Published in:
- Human Mutation, 2007, v. 28, n. 6, p. 599, doi. 10.1002/humu.20493
- By:
- Publication type:
- Article
Progress in understanding the biology of the human mutagen LINE-1.
- Published in:
- Human Mutation, 2007, v. 28, n. 6, p. 527, doi. 10.1002/humu.20486
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- Publication type:
- Article
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
- Published in:
- Human Mutation, 2007, v. 28, n. 6, p. 638, doi. 10.1002/humu.9496
- By:
- Publication type:
- Article
Ultraviolet radiation and melanoma: a systematic review and analysis of reported sequence variants.
- Published in:
- Human Mutation, 2007, v. 28, n. 6, p. 578, doi. 10.1002/humu.20481
- By:
- Publication type:
- Article
Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients.
- Published in:
- Human Mutation, 2007, v. 28, n. 6, p. 613, doi. 10.1002/humu.20496
- By:
- Publication type:
- Article
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.
- Published in:
- Human Mutation, 2007, v. 28, n. 6, p. 571, doi. 10.1002/humu.20478
- By:
- Publication type:
- Article
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.
- Published in:
- Human Mutation, 2007, v. 28, n. 6, p. 638, doi. 10.1002/humu.9495
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- Publication type:
- Article
Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain.
- Published in:
- Human Mutation, 2007, v. 28, n. 6, p. 563, doi. 10.1002/humu.20480
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- Publication type:
- Article
PhenCode: connecting ENCODE data with mutations and phenotype.
- Published in:
- 2007
- By:
- Publication type:
- Other
Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database.
- Published in:
- Human Mutation, 2007, v. 28, n. 6, p. 622, doi. 10.1002/humu.20495
- By:
- Publication type:
- Article
Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.
- Published in:
- Human Mutation, 2007, v. 28, n. 6, p. 589, doi. 10.1002/humu.20488
- By:
- Publication type:
- Article