Works matching IS 10597794 AND DT 2005 AND VI 25 AND IP 4
Results: 16
Automated splicing mutation analysis by information theory.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 334, doi. 10.1002/humu.20151
- By:
- Publication type:
- Article
Mutation analysis of the HOX paralogous 4-13 genes in children with acute lymphoid malignancies: Identification of a novel germline mutation of HOXD4 leading to a partial loss-of-function.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 384, doi. 10.1002/humu.20155
- By:
- Publication type:
- Article
Identification of ten novel mutations in patients with eIF2B-related disorders.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 411, doi. 10.1002/humu.9325
- By:
- Publication type:
- Article
Gene conversion cetween functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 343, doi. 10.1002/humu.20148
- By:
- Publication type:
- Article
Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 413, doi. 10.1002/humu.9329
- By:
- Publication type:
- Article
Conservation of the RB1 gene in human and primates.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 396, doi. 10.1002/humu.20154
- By:
- Publication type:
- Article
Identification of novel mutations in patients with Shwachman-Diamond syndrome.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 410, doi. 10.1002/humu.9324
- By:
- Publication type:
- Article
Polymorphism in the nuclear excision repair gene ERCC2/XPD: association between an exon 6-exon 10 haplotype and susceptibility to cutaneous basal cell carcinoma.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 353, doi. 10.1002/humu.20158
- By:
- Publication type:
- Article
Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 412, doi. 10.1002/humu.9328
- By:
- Publication type:
- Article
SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 372, doi. 10.1002/humu.20153
- By:
- Publication type:
- Article
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 410, doi. 10.1002/humu.9323
- By:
- Publication type:
- Article
Hellenic National Mutation Database: a prototype database for mutations leading to inherited disorders in the Hellenic population.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 327, doi. 10.1002/humu.20157
- By:
- Publication type:
- Article
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 412, doi. 10.1002/humu.9327
- By:
- Publication type:
- Article
Bovine model of Marfan syndrome results from an amino acid change (c.3598G>A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 348, doi. 10.1002/humu.20152
- By:
- Publication type:
- Article
Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 360, doi. 10.1002/humu.20156
- By:
- Publication type:
- Article
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 411, doi. 10.1002/humu.9326
- By:
- Publication type:
- Article