Works matching IS 10597794 AND DT 1997 AND VI 9 AND IP 4
Results: 16
Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.
- Published in:
- Human Mutation, 1997, v. 9, n. 4, p. 300, doi. 10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9
- By:
- Publication type:
- Article
δ-Thalassemic phenotype due to two 'novel' δ-globin gene mutations: CD11[GTC → GGC (A8)-HbA<sub>2</sub>-pylos] and CD 85 [TTT → TCT (F1)-HbA<sub>2</sub>-etolia].
- Published in:
- Human Mutation, 1997, v. 9, n. 4, p. 344, doi. 10.1002/(SICI)1098-1004(1997)9:4<344::AID-HUMU7>3.0.CO;2-5
- By:
- Publication type:
- Article
Three novel fibrillin mutations in exons 25 and 27: Classic versus neonatal Marfan syndrome.
- Published in:
- Human Mutation, 1997, v. 9, n. 4, p. 359, doi. 10.1002/(SICI)1098-1004(1997)9:4<359::AID-HUMU10>3.0.CO;2-1
- By:
- Publication type:
- Article
Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques.
- Published in:
- Human Mutation, 1997, v. 9, n. 4, p. 370, doi. 10.1002/(SICI)1098-1004(1997)9:4<370::AID-HUMU14>3.0.CO;2-#
- By:
- Publication type:
- Article
Detection of mutations in multi-exon genes: Comparison of conformation sensitive gel electrophoresis and sequencing strategies with respect to cost and time for finding mutations.
- Published in:
- Human Mutation, 1997, v. 9, n. 4, p. 339, doi. 10.1002/(SICI)1098-1004(1997)9:4<339::AID-HUMU6>3.0.CO;2-0
- By:
- Publication type:
- Article
Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and ΔM1140.
- Published in:
- Human Mutation, 1997, v. 9, n. 4, p. 368, doi. 10.1002/(SICI)1098-1004(1997)9:4<368::AID-HUMU13>3.0.CO;2-0
- By:
- Publication type:
- Article
Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview.
- Published in:
- Human Mutation, 1997, v. 9, n. 4, p. 291, doi. 10.1002/(SICI)1098-1004(1997)9:4<291::AID-HUMU1>3.0.CO;2-9
- By:
- Publication type:
- Article
Identification of a splice site mutation (2789+5 G>A) associated with small amounts of normal CFTRmRNA and mild cystic fibrosis.
- Published in:
- Human Mutation, 1997, v. 9, n. 4, p. 332, doi. 10.1002/(SICI)1098-1004(1997)9:4<332::AID-HUMU5>3.0.CO;2-7
- By:
- Publication type:
- Article
Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis.
- Published in:
- Human Mutation, 1997, v. 9, n. 4, p. 356, doi. 10.1002/(SICI)1098-1004(1997)9:4<356::AID-HUMU9>3.0.CO;2-3
- By:
- Publication type:
- Article
Novel and recurrent mutations in the neurofibromatosis type 1 ( NF1) gene.
- Published in:
- Human Mutation, 1997, v. 9, n. 4, p. 366, doi. 10.1002/(SICI)1098-1004(1997)9:4<366::AID-HUMU12>3.0.CO;2-0
- By:
- Publication type:
- Article
Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.
- Published in:
- Human Mutation, 1997, v. 9, n. 4, p. 322, doi. 10.1002/(SICI)1098-1004(1997)9:4<322::AID-HUMU4>3.0.CO;2-7
- By:
- Publication type:
- Article
Serine for glycine substitutions in the C-terminal third of the α1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta.
- Published in:
- Human Mutation, 1997, v. 9, n. 4, p. 378, doi. 10.1002/(SICI)1098-1004(1997)9:4<378::AID-HUMU16>3.0.CO;2-#
- By:
- Publication type:
- Article
Single-step DGGE-based mutation scanning of the p53 gene: Application to genetic diagnosis of colorectal cancer.
- Published in:
- Human Mutation, 1997, v. 9, n. 4, p. 348, doi. 10.1002/(SICI)1098-1004(1997)9:4<348::AID-HUMU8>3.0.CO;2-1
- By:
- Publication type:
- Article
New evidence for a mutation hotspot in exon 37 of the NF1 gene.
- Published in:
- Human Mutation, 1997, v. 9, n. 4, p. 374, doi. 10.1002/(SICI)1098-1004(1997)9:4<374::AID-HUMU15>3.0.CO;2-#
- By:
- Publication type:
- Article
Novel nonsense mutation (W302X) in the steroid 21-hydroxylase gene of a Finnish patient with the salt-wasting form of congenital adrenal hyperplasia.
- Published in:
- Human Mutation, 1997, v. 9, n. 4, p. 363, doi. 10.1002/(SICI)1098-1004(1997)9:4<363::AID-HUMU11>3.0.CO;2-0
- By:
- Publication type:
- Article
Prediction of multiple hypermutable codons in the human PAH gene: Codon 280 contains recurrent mutations in Quebec and other populations.
- Published in:
- Human Mutation, 1997, v. 9, n. 4, p. 316, doi. 10.1002/(SICI)1098-1004(1997)9:4<316::AID-HUMU3>3.0.CO;2-3
- By:
- Publication type:
- Article