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

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

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

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

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

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

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

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

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