Works matching IS 10597794 AND DT 1999 AND VI 14 AND IP 4

Results: 23

Somatic mutations of the first 14 exons of APC in hamartomatous polyps of the colon.
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 351, doi. 10.1002/(SICI)1098-1004(199910)14:4<351::AID-HUMU13>3.0.CO;2-M
By:
- Kim, Jin C.;
- Roh, Seon A.;
- Kim, Hee C.;
- Yu, Chang S.;
- Lee, Dong H.;
- Ahn, Byung Y.;
- Kim, Kyung M.;
- Yang, Suk K.;
- Kang, Gyeong H.;
- Beck, Nicholas E.;
- Bodmer, Walter F.
Publication type:
Article
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 275, doi. 10.1002/(SICI)1098-1004(199910)14:4<275::AID-HUMU1>3.0.CO;2-N
By:
- Ugarte, Magdalena;
- Pérez-Cerdá, Celia;
- Rodríguez-Pombo, Pilar;
- Desviat, Lourdes R.;
- Pérez, Belén;
- Richard, Eva;
- Muro, Silvia;
- Campeau, Eric;
- Ohura, Toshihiro;
- Gravel, Roy A.
Publication type:
Article
A Novel Mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 353, doi. 10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU17>3.0.CO;2-4
By:
- Bellone, Emilia;
- Di Maria, Emilio;
- Soriani, Silvia;
- Varese, Alessandra;
- Doria, Laura Lamba;
- Ajmar, Franco;
- Mandich, Paola
Publication type:
Article
A study of Wilson disease mutations in Britain.
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 304, doi. 10.1002/(SICI)1098-1004(199910)14:4<304::AID-HUMU5>3.0.CO;2-W
By:
- Curtis, Diana;
- Durkie, Miranda;
- Balac (Morris), Pauline;
- Sheard, Donna;
- Goodeve, Anne;
- Peake, Ian;
- Quarrell, Oliver;
- Tanner, Stuart
Publication type:
Article
A highly sensitive, fast, and economical technique for mutation analysis in hereditary breast and ovarian cancers.
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 333, doi. 10.1002/(SICI)1098-1004(199910)14:4<333::AID-HUMU9>3.0.CO;2-C
By:
- Arnold, Norbert;
- Gross, Eva;
- Schwarz-Boeger, Ulrike;
- Pfisterer, Jacobus;
- Jonat, Walter;
- Kiechle, Marion
Publication type:
Article
A null-mutated lysyl hydroxylase gene in a compound heterozygote British patient with Ehlers-Danlos syndrome type VI.
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 351, doi. 10.1002/(SICI)1098-1004(199910)14:4<351::AID-HUMU12>3.0.CO;2-P
By:
- Heikkinen, Jari;
- Pousi, Birgitta;
- Pope, Michael;
- Myllylä, Raili
Publication type:
Article
New missense mutation in exon 13 (N789T) of the coagulation factor V gene.
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 357, doi. 10.1002/(SICI)1098-1004(199910)14:4<357::AID-HUMU23>3.0.CO;2-3
By:
- Kostka, H.;
- Siegert, G.;
- Gehrisch, S.;
- Kuhlisch, E.;
- Runge, E.;
- Jaross, W.
Publication type:
Article
A novel point mutation (R840S) in the androgen receptor in a Brazilian family with partial androgen insensitivity syndrome.
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 353, doi. 10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU16>3.0.CO;2-7
By:
- Melo, Karla F.S.;
- Latronico, Ana Claudia;
- Costa, Elaine M.F.;
- Billerbeck, Ana Elisa C.;
- Mendonca, Berenice B.;
- Arnhold, Ivo J.P.
Publication type:
Article
Molecular characterization of Wilson disease in the Sardinian population-Evidence of a founder effect.
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 294, doi. 10.1002/(SICI)1098-1004(199910)14:4<294::AID-HUMU4>3.0.CO;2-9
By:
- Loudianos, Georgios;
- Dessi, Valeria;
- Lovicu, Mario;
- Angius, Andrea;
- Figus, Annalena;
- Lilliu, Franco;
- De Virgiliis, Stefano;
- Nurchi, Anna Maria;
- Deplano, Angelo;
- Moi, Paolo;
- Pirastu, Mario;
- Cao, Antonio
Publication type:
Article
An online locus-specific mutation database for familial hypertrophic cardiomyopathy.
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 326, doi. 10.1002/(SICI)1098-1004(199910)14:4<326::AID-HUMU8>3.0.CO;2-F
By:
- Fung, David C.Y.;
- Yu, Bing;
- Littlejohn, Tim;
- Trent, Ronald J.
Publication type:
Article
The ΔF508 mutation in Ecuador, South America.
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 348, doi. 10.1002/(SICI)1098-1004(199910)14:4<348::AID-HUMU11>3.0.CO;2-8
By:
- Paz-y-Miño, César;
- Pérez, J. Christian;
- Burgos, Ramiro;
- Dávalos, Ma. Verónica;
- Leone, Paola E.
Publication type:
Article
Heterozygous familial hypercholesterolemia: A new point-mutation (1372del2) in the LDL-receptor gene which causes severe hypercholesterolemia.
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 357, doi. 10.1002/(SICI)1098-1004(199910)14:4<357::AID-HUMU22>3.0.CO;2-6
By:
- Widhalm, Kurt;
- Iro, Christa;
- Lindemayr, Annabell;
- Schmidt, Helena;
- Kostner, Gert
Publication type:
Article
Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 352, doi. 10.1002/(SICI)1098-1004(199910)14:4<352::AID-HUMU15>3.0.CO;2-D
By:
- Climent, Consuelo;
- García-Pérez, Miguel Ángel;
- Sanjurjo, Pablo;
- Ruiz-Sanz, José-Ignacio;
- Vilaseca, María Antònia;
- Pineda, Mercè;
- Campistol, Jaume;
- Rubio, Vicente
Publication type:
Article
Methylation-sensitive, single-strand conformation analysis (MS-SSCA): A rapid method to screen for and analyze methylation.
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 289, doi. 10.1002/(SICI)1098-1004(199910)14:4<289::AID-HUMU3>3.0.CO;2-A
By:
- Bianco, Tina;
- Hussey, Damian;
- Dobrovic, Alexander
Publication type:
Article
Acute intermittent porphyria: Characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation (IVS8-1G>T).
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 355, doi. 10.1002/(SICI)1098-1004(199910)14:4<355::AID-HUMU19>3.0.CO;2-T
By:
- De Siervi, Adriana;
- Mendez, Manuel;
- Parera, Victoria Estela;
- Varela, Laura;
- Batlle, Alcira M. del C.;
- Rossetti, Maria Victoria
Publication type:
Article
Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 320, doi. 10.1002/(SICI)1098-1004(199910)14:4<320::AID-HUMU7>3.0.CO;2-O
By:
- Buj-Bello, Anna;
- Biancalana, Valérie;
- Moutou, Céline;
- Laporte, Jocelyn;
- Mandel, Jean-Louis
Publication type:
Article
Comparison of three methods for single nucleotide polymorphism typing for DNA bank studies: Sequence-specific oligonucleotide probe hybridisation, TaqMan liquid phase hybridisation, and microplate array diagonal gel electrophoresis (MADGE).
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 340, doi. 10.1002/(SICI)1098-1004(199910)14:4<340::AID-HUMU10>3.0.CO;2-Z
By:
- Holloway, John W.;
- Beghé, Bianca;
- Turner, Steve;
- Hinks, Lesley J.;
- Day, Ian N.M.;
- Howell, W. Martin
Publication type:
Article
Identification of a novel mutation (525del T) in exon 4 of the CFTR gene in a patient with cystic fibrosis.
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 357, doi. 10.1002/(SICI)1098-1004(199910)14:4<357::AID-HUMU21>3.0.CO;2-9
By:
- Kušic, Jelena;
- Radojkovic, Dragica;
- Cuppens, Harry;
- Jaspers, Martine;
- Tomic, Jelena;
- Savic, Ana
Publication type:
Article
Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Chinese.
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 352, doi. 10.1002/(SICI)1098-1004(199910)14:4<352::AID-HUMU14>3.0.CO;2-G
By:
- Ainoon, O.;
- Joyce, J.;
- Boo, N.Y.;
- Cheong, S.K.;
- Zainal, Z.A.;
- Hamidah, N.H.
Publication type:
Article
RB1 gene mutations in retinoblastoma.
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 283, doi. 10.1002/(SICI)1098-1004(199910)14:4<283::AID-HUMU2>3.0.CO;2-J
By:
- Lohmann, Dietmar R.
Publication type:
Article
Analysis of DNA elements that modulate myosin VIIA expression in humans.
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 354, doi. 10.1002/(SICI)1098-1004(199910)14:4<354::AID-HUMU18>3.0.CO;2-Z
By:
- Orten, D.J.;
- Weston, M.D.;
- Kelley, P.M.;
- Cremers, C.W.;
- Wagenaar, M.;
- Jacobson, S.G.;
- Kimberling, W.J.
Publication type:
Article
Threading analysis of the Pitx2 homeodomain: Predicted structural effects of mutations causing Rieger syndrome and iridogoniodysgenesis.
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 312, doi. 10.1002/(SICI)1098-1004(199910)14:4<312::AID-HUMU6>3.0.CO;2-S
By:
- Banerjee-Basu, Sharmila;
- Baxevanis, Andreas D.
Publication type:
Article
Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia.
Published in:
Human Mutation, 1999, v. 14, n. 4, p. 355, doi. 10.1002/(SICI)1098-1004(199910)14:4<355::AID-HUMU20>3.0.CO;2-I
By:
- Cardoso, M. Luís;
- Martins, Esmeralda;
- Vasconcelos, Rui;
- Vilarinho, Laura;
- Rocha, Jorge
Publication type:
Article