Works matching IS 10597794 AND DT 1999 AND VI 13 AND IP 6

Results: 26

Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: Analysis of transcript levels in dermal fibroblasts.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 439, doi. 10.1002/(SICI)1098-1004(1999)13:6<439::AID-HUMU3>3.0.CO;2-N
By:
- Gardella, Rita;
- Zoppi, Nicoletta;
- Ferraboli, Sergio;
- Marini, Dario;
- Tadini, Gianluca;
- Barlati, Sergio;
- Colombi, Marina
Publication type:
Article
Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 476, doi. 10.1002/(SICI)1098-1004(1999)13:6<476::AID-HUMU7>3.0.CO;2-2
By:
- Westerman, Anne Marie;
- Entius, Mark M.;
- Boor, Patrick P.C.;
- Koole, Rita;
- Baar, Ellen de;
- Offerhaus, G. Johan A.;
- Lubinski, Jan;
- Lindhout, Dick;
- Halley, Dicky J.J.;
- de Rooij, Felix W.M.;
- Wilson, J.H. Paul
Publication type:
Article
A fast polymerase chain reaction-mediated strategy for introducing repeat expansions into CAG-repeat containing genes.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 497, doi. 10.1002/(SICI)1098-1004(1999)13:6<497::AID-HUMU10>3.0.CO;2-6
By:
- Laccone, Franco;
- Maiwald, Robert;
- Bingemann, Sonja
Publication type:
Article
An 11-bp deletion in exon 10 (c1295del11) of WASP responsible for Wiskott-Aldrich Syndrome.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 507, doi. 10.1002/(SICI)1098-1004(1999)13:6<507::AID-HUMU21>3.0.CO;2-8
By:
- Chan, Siu-Yuen;
- Hui, Yuk-Fan;
- Lau, Yu-Lung
Publication type:
Article
Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 504, doi. 10.1002/(SICI)1098-1004(1999)13:6<504::AID-HUMU14>3.0.CO;2-9
By:
- Möller-Morlang, Katharina;
- Tavassoli, Kamiab;
- Eigel, Antonin;
- Pollmann, Hartmut;
- Horst, Jürgen
Publication type:
Article
A novel missense mutation S65C in the HFE gene with a possible role in hereditary haemochromatosis.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 507, doi. 10.1002/(SICI)1098-1004(1999)13:6<507::AID-HUMU25>3.0.CO;2-X
By:
- Fagan, Elizabeth;
- Payne, Stewart J.
Publication type:
Article
A novel splice site mutation (IVS17-2A>C) associated with Hermansky-Pudlak Syndrome.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 506, doi. 10.1002/(SICI)1098-1004(1999)13:6<506::AID-HUMU18>3.0.CO;2-S
By:
- Wildenberg, Scott C.;
- Fryer, James P.;
- Oetting, William S.;
- King, Richard A.
Publication type:
Article
Insertion of Alu element responsible for acute intermittent porphyria.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 431, doi. 10.1002/(SICI)1098-1004(1999)13:6<431::AID-HUMU2>3.0.CO;2-Y
By:
- Mustajoki, Sami;
- Ahola, Helena;
- Mustajoki, Pertti;
- Kauppinen, Raili
Publication type:
Article
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase ( GALT) gene.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 417, doi. 10.1002/(SICI)1098-1004(1999)13:6<417::AID-HUMU1>3.0.CO;2-0
By:
- Tyfield, Linda;
- Reichardt, Juergen;
- Fridovich-Keil, Judy;
- Croke, David T.;
- Elsas, Louis J.;
- Strobl, Wolfgang;
- Kozak, Libor;
- Coskun, Turgay;
- Novelli, Giuseppe;
- Okano, Yoshiyuki;
- Zekanowski, Cezary;
- Shin, Yoon;
- Boleda, Ma Dolores
Publication type:
Article
A missense mutation (W155R) in an American patient with Friedreich Ataxia.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 506, doi. 10.1002/(SICI)1098-1004(1999)13:6<506::AID-HUMU20>3.0.CO;2-E
By:
- Labuda, Malgorzata;
- Poirier, Josee;
- Pandolfo, Massimo
Publication type:
Article
A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 503, doi. 10.1002/(SICI)1098-1004(1999)13:6<503::AID-HUMU13>3.0.CO;2-F
By:
- Smooker, Peter M.;
- Gough, Tamara J.;
- Cotton, Richard G.H.;
- Alliaudi, Carla;
- de Sanctis, Luisa;
- Dianzani, Irma
Publication type:
Article
PCR detection of common DNA variation c626T>C in encoding region of presenilin 2 (PSEN2) gene.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 507, doi. 10.1002/(SICI)1098-1004(1999)13:6<507::AID-HUMU24>3.0.CO;2-#
By:
- Korovaitseva, G.I.;
- Grigorenko, A.;
- Riazanskaia, N.;
- Rogaev, E.I.
Publication type:
Article
A novel germline mutation at exon 7 of the MSH2 gene (1249delG) in a large HNPCC Brazilian kindred.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 506, doi. 10.1002/(SICI)1098-1004(1999)13:6<506::AID-HUMU17>3.0.CO;2-V
By:
- Corvello, Cassandra M.;
- Bevilacqua, Roberta A.U.;
- Rossi, Benedito M.;
- Simpson, Andrew J.G.
Publication type:
Article
Mutations of the VHL gene in sporadic renal cell carcinoma: Definition of a risk factor for VHL patients to develop an RCC.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 464, doi. 10.1002/(SICI)1098-1004(1999)13:6<464::AID-HUMU6>3.0.CO;2-A
By:
- Gallou, C.;
- Joly, D.;
- Méjean, A.;
- Staroz, F.;
- Martin, N.;
- Tarlet, G.;
- Orfanelli, M.T.;
- Bouvier, R.;
- Droz, D.;
- Chrétien, Y.;
- Maréchal, J.M.;
- Richard, S.;
- Junien, C.;
- Béroud, C.
Publication type:
Article
Temperature and pH effects on single-strand conformation polymorphism analysis by capillary electrophoresis.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 458, doi. 10.1002/(SICI)1098-1004(1999)13:6<458::AID-HUMU5>3.0.CO;2-C
By:
- Ren, Jicun;
- Ueland, Per Magne
Publication type:
Article
Steroid 21-hydroxylase deficiency: Mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 482, doi. 10.1002/(SICI)1098-1004(1999)13:6<482::AID-HUMU8>3.0.CO;2-0
By:
- Ohlsson, Gita;
- Müller, Jørn;
- Skakkebæk, Niels Erik;
- Schwartz, Marianne
Publication type:
Article
Molecular characterization of phenylalanine hydroxylase deficiency in Chile.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 503, doi. 10.1002/(SICI)1098-1004(1999)13:6<503::AID-HUMU12>3.0.CO;2-I
By:
- Pérez, Belén;
- Desviat, Lourdes R.;
- De Lucca, Marisel;
- Cornejo, Veronica;
- Raimann, Erna;
- Ugarte, Magdalena
Publication type:
Article
A neutral polymorphism (c1088C>T) in the estrogen receptor detected by DGGE.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 507, doi. 10.1002/(SICI)1098-1004(1999)13:6<507::AID-HUMU23>3.0.CO;2-2
By:
- Eckstein, Michael;
- Vered, Iris;
- Karasik, Avraham;
- Friedman, Eitan
Publication type:
Article
A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 505, doi. 10.1002/(SICI)1098-1004(1999)13:6<505::AID-HUMU16>3.0.CO;2-0
By:
- Kapelari, Klaus;
- Ghanaati, Zahra;
- Wollmann, Hartmut;
- Ventz, Manfred;
- Ranke, Michael B.;
- Kofler, Reinhard;
- Peters, Hartmut
Publication type:
Article
Four novel mutations in the cystathionine β-synthase gene: Effect of a second linked mutation on the severity of the homocystinuric phenotype.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 453, doi. 10.1002/(SICI)1098-1004(1999)13:6<453::AID-HUMU4>3.0.CO;2-K
By:
- de Franchis, Raffaella;
- Kraus, Eva;
- Kozich, Viktor;
- Sebastio, Gianfranco;
- Kraus, Jan P.
Publication type:
Article
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 487, doi. 10.1002/(SICI)1098-1004(1999)13:6<487::AID-HUMU9>3.0.CO;2-T
By:
- Zhang, Zhongyi;
- Suzuki, Yasuyuki;
- Shimozawa, Nobuyuki;
- Fukuda, Seiji;
- Imamura, Atsushi;
- Tsukamoto, Toshiro;
- Osumi, Takashi;
- Fujiki, Yukio;
- Orii, Tadao;
- Wanders, Ronald J.A.;
- Barth, Peter G.;
- Moser, Hugo W.;
- Paton, Barbara C.;
- Besley, Guy T.;
- Kondo, Naomi
Publication type:
Article
Osteogenesis imperfecta: Mosaicism and refinement of the genotype-phenotype map in OI type III.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 503, doi. 10.1002/(SICI)1098-1004(1999)13:6<503::AID-HUMU11>3.0.CO;2-L
By:
- Lund, Allan M.;
- Åström, Eva;
- Söderhäll, Stefan;
- Schwartz, Marianne;
- Skovby, Flemming
Publication type:
Article
Identification of a novel missense mutation (G149E) in the glucose-6-phosphate translocase gene in a Chinese family with glycogen storage disease 1b.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 507, doi. 10.1002/(SICI)1098-1004(1999)13:6<507::AID-HUMU22>3.0.CO;2-5
By:
- Lam, Ching-Wan;
- Tong, Sui-Fan;
- Lam, Yuen-Yu;
- Chan, Bik-Yan;
- Ma, Chun-Hung;
- Lim, Pak-Leong
Publication type:
Article
Different somatic and germline HPRT1 mutations promote use of a common, cryptic intron 1 splice site.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 504, doi. 10.1002/(SICI)1098-1004(1999)13:6<504::AID-HUMU15>3.0.CO;2-6
By:
- Colgin, Lorel M.;
- Hackmann, Alden F.M.;
- Monnat, Raymond J.
Publication type:
Article
Polymorphism (g24914delA) in 5′-upstream region of presenilin 2 (PSEN2) gene.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 508, doi. 10.1002/(SICI)1098-1004(1999)13:6<508::AID-HUMU26>3.0.CO;2-R
By:
- Riazanskaya, N.;
- Grogorenko, A.;
- Utenkov, F.;
- Dvoryanchikov, G.;
- Rogaev, E.I.
Publication type:
Article
A novel missense mutation, R70W, in the human uncoupling protein 3 gene in a family with type 2 diabetes.
Published in:
Human Mutation, 1999, v. 13, n. 6, p. 506, doi. 10.1002/(SICI)1098-1004(1999)13:6<506::AID-HUMU19>3.0.CO;2-P
By:
- Brown, A.M.;
- Willi, S.M.;
- Argyropoulos, G.;
- Garvey, W.T.
Publication type:
Article