Works matching IS 10597794 AND DT 1996 AND VI 8 AND IP 4

Results: 29

A novel nonsense mutation, S466Xa in exon 10 of the cystic fibrosis transmembrane conductance regulator gene.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 392, doi. 10.1002/humu.1380080402

By:

Mittre, H.;
Barre, M.;
Leymarie, P.

Publication type:

Article

Stop codon in exon 30 (E2069X) of β-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 366, doi. 10.1002/(SICI)1098-1004(1996)8:4<366::AID-HUMU11>3.0.CO;2-0

By:

Maillet, Philippe;
Inoue, Takafumi;
Kanzaki, Akio;
Yawata, Ayumi;
Kato, Koji;
Baklouti, Faouzi;
Delaunay, Jean;
Yawata, Yoshihito

Publication type:

Article

A common base change in the promoter region of the human endothelial NO-synthase ( NQS3) gene.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 394, doi. 10.1002/(SICI)1098-1004(1996)8:4<394::AID-HUMU22>3.0.CO;2-X

By:

Meier, Johannes;
Affeldt, Maja;
Opitz, Christian;
Kleber, Franz X.;
Speer, Astrid

Publication type:

Article

Independent origin of single and double mutations in the human glucose 6-phosphate dehydrogenase gene.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 311, doi. 10.1002/(SICI)1098-1004(1996)8:4<311::AID-HUMU3>3.0.CO;2-A

By:

Vulliamy, Tom;
Rovira, Ana;
Yusoff, Nazarah;
Colomer, Dolors;
Luzzatto, Lucio;
Vives-Corrons, Joan-Luis

Publication type:

Article

A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 377, doi. 10.1002/(SICI)1098-1004(1996)8:4<377::AID-HUMU15>3.0.CO;2-#

By:

Fujiyama, Jiro;
Sakuraba, Hitoshi;
Kuriyama, Masaru;
Fujita, Takehisa;
Nagata, Kazuya;
Nakagawa, Hiroto;
Osame, Mitsuhiro

Publication type:

Article

Mutation characterization of CFTR gene in 206 Northern Irish CF families: Thirty mutations, including two novel, account for ∼︁94% of CF chromosomes.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 340, doi. 10.1002/(SICI)1098-1004(1996)8:4<340::AID-HUMU7>3.0.CO;2-B

By:

Hughes, David J.;
Hill, Alison J.M.;
Macek, Milan;
Redmond, Aileen O.;
Nevin, Norman C.;
Graham, Colin A.

Publication type:

Article

A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28).

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 391, doi. 10.1002/(SICI)1098-1004(1996)8:4<391::AID-HUMU19>3.0.CO;2-Y

By:

Van Camp, Guy;
Fransen, Erik;
Vits, Lieve;
Raes, Geert;
Willems, Patrick J.

Publication type:

Article

Masthead.

Published in:: Human Mutation, 1996, v. 8, n. 4, p. fmi, doi. 10.1002/humu.1380080401
Publication type:: Article

A novel mutation (S558X) causing choroideremia.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 395, doi. 10.1002/humu.1380080405

By:

Beaufère, Laurent;
Tuffery, Sylvie;
Hamel, Christian;
Amaud, Bernard;
Demaille, Jacques;
Claustres, Mireille

Publication type:

Article

Absence of PMP22 coding region mutations in CMT1A duplication patients: Further evidence supporting gene dosage as a mechanism for charcot-marie-tooth disease type 1A.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 362, doi. 10.1002/(SICI)1098-1004(1996)8:4<362::AID-HUMU10>3.0.CO;2-0

By:

Warner, Laura E.;
Roa, Benjamin B.;
Lupski, James R.

Publication type:

Article

A novel mutation in the BRCA1 gene in a German early-onset breast cancer family.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 393, doi. 10.1002/(SICI)1098-1004(1996)8:4<393::AID-HUMU21>3.0.CO;2-X

By:

Waindzoch, Beate;
Grade, Klaus;
Jandrig, Burkhard;
Müller, Manuela;
Schlag, Peter;
Scherneck, Siegfried

Publication type:

Article

A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patients.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 304, doi. 10.1002/(SICI)1098-1004(1996)8:4<304::AID-HUMU2>3.0.CO;2-7

By:

Silander, Kaisa;
Meretoja, Päivi;
Nelis, Eva;
Timmerman, Vincent;
Broeckhoven, Christine Van;
Aula, Pertti;
Savontaus, Marja-Liisa

Publication type:

Article

A point mutation in codon 3 of connexin-32 is associated with X-linked charcot-marie-tooth neuropathy.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 375, doi. 10.1002/(SICI)1098-1004(1996)8:4<375::AID-HUMU14>3.0.CO;2-#

By:

Gupta, Sanjoy;
Benstead, Timothy;
Neumann, Paul;
Guernsey, Duane

Publication type:

Article

Ornithine transcarbamylase deficiency: Characterization of gene mutations and polymorphisms.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 333, doi. 10.1002/(SICI)1098-1004(1996)8:4<333::AID-HUMU6>3.0.CO;2-8

By:

Leibundgut, Elisabeth Oppliger;
Wermuth, Bendicht;
Colombo, Jean-Pierre;
Liechti-Gallati, Sabina

Publication type:

Article

Crouzon syndrome: Previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 386, doi. 10.1002/(SICI)1098-1004(1996)8:4<386::AID-HUMU18>3.0.CO;2-Z

By:

Steinberger, Daniela;
Mulliken, John B.;
Müller, Ulrich

Publication type:

Article

Frameshift mutation at codon 642 of the hMLH1 gene in human endometrial cancer.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 394, doi. 10.1002/humu.1380080404

By:

Fukushige, Shinichi;
Wakatsuki, Shigeru;
Nagase, Satoru;
Horii, Akira

Publication type:

Article

A novel missense ( E163 G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 392, doi. 10.1002/(SICI)1098-1004(1996)8:4<392::AID-HUMU20>3.0.CO;2-X

By:

Wiebusch, Heiko;
Funke, Harald;
Santer, René;
Richter, Werner;
Assmann, Gerd

Publication type:

Article

Mutations and polymorphisms in the human peripherin- RDS gene and their involvement in inherited retinal degeneration.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 297, doi. 10.1002/(SICI)1098-1004(1996)8:4<297::AID-HUMU1>3.0.CO;2-5

By:

Keen, T. Jeffrey;
Inglehearn, Chris F.

Publication type:

Article

A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 373, doi. 10.1002/(SICI)1098-1004(1996)8:4<373::AID-HUMU13>3.0.CO;2-#

By:

Ségues, Bertrand;
Veber, Pascale Saugier;
Rabier, Daniel;
Calvas, Patrick;
Saudubray, Jean-Marie;
Gilbert-Dussardier, Brigitte;
Bonnefont, Jean-Paul;
Munnich, Arnold

Publication type:

Article

Identification of a novel mutation (A268G) in exon 8 of the HTRβ gene in a large family with thyroid hormone resistance.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 396, doi. 10.1002/(SICI)1098-1004(1996)8:4<396::AID-HUMU24>3.0.CO;2-X

By:

Jézéquel, Pascal;
Guilhem, Isabelle;
Hespel, Jean Pierre;
Le Treut, André;
Le Gall, Jean Yves;
Allannic, Hubert;
Blayau, Martine

Publication type:

Article

A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 326, doi. 10.1002/(SICI)1098-1004(1996)8:4<326::AID-HUMU5>3.0.CO;2-5

By:

Koivisto, Ulla-Maija;
Kontula, Kimmo

Publication type:

Article

A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 384, doi. 10.1002/(SICI)1098-1004(1996)8:4<384::AID-HUMU17>3.0.CO;2-Z

By:

Donnelly, Andrew;
Colley, Alison;
Crimmins, Denis;
Mulley, John

Publication type:

Article

A rapid and reliable PCR method for genotyping the ABO blood group. II: A2 and O2 alleles.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 358, doi. 10.1002/(SICI)1098-1004(1996)8:4<358::AID-HUMU9>3.0.CO;2-3

By:

O'Keefe, Denise S.;
Dobrovic, Alexander

Publication type:

Article

Identification of a novel R552Q mutation in exon 13 of the β-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 393, doi. 10.1002/humu.1380080403

By:

Valverde, Diana;
Baiget, Montserrat;
Seminago, Ramón;
Del Rio, Elisabeth;
Garcia-Sandoval, Blanca;
Del Rio, Teresa;
Bayés, Mdnica;
Balcells, Susana;
Martinez, Amalia;
Grinberg, Daniel;
Ayuso, Carmen

Publication type:

Article

Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 369, doi. 10.1002/(SICI)1098-1004(1996)8:4<369::AID-HUMU12>3.0.CO;2-0

By:

Maceratesi, Patrizia;
Sangiuolo, Federica;
Novelli, Giuseppe;
Ninfali, Paolino;
Magnani, Mauro;
Reichardt, Juergen K.V.;
Dallapiccola, Bruno

Publication type:

Article

Three novel APC gene mutations in portuguese FAP kindreds.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 395, doi. 10.1002/(SICI)1098-1004(1996)8:4<395::AID-HUMU23>3.0.CO;2-X

By:

Marshall, Brendan;
Isidro, Gloria;
Carvalhas, Raquel;
Veiga, Isabel;
Castedo, Sergio;
Soares, Jose;
Boavida, Maria Guida

Publication type:

Article

Two novel apolipoprotein A-IV variants in individuals with familial combined hyperlipidemia and diminished levels of lipoprotein lipase activity.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 319, doi. 10.1002/(SICI)1098-1004(1996)8:4<319::AID-HUMU4>3.0.CO;2-2

By:

Deeb, S.S.;
Nevin, D.N.;
Iwasaki, L.;
Brunzell, J.D.

Publication type:

Article

Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 381, doi. 10.1002/(SICI)1098-1004(1996)8:4<381::AID-HUMU16>3.0.CO;2-Z

By:

Wiebusch, Heiko;
Funke, Harald;
Bruin, Taco;
Bucher, Hans;
von Eckardstein, Arnold;
Kastelein, John J.P.;
Assmann, Gerd

Publication type:

Article

Germline mutations in the Von Hippel-Lindau disease ( VHL) gene in families from North America, Europe, and Japan.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 348, doi. 10.1002/(SICI)1098-1004(1996)8:4<348::AID-HUMU8>3.0.CO;2-3

By:

Zbar, Berton;
Kishida, Takeshi;
Chen, Fan;
Schmidt, Laura;
Maher, Eamonn R.;
Richards, Frances M.;
Crossey, Paul A.;
Webster, Andrew R.;
Affara, Nabeel A.;
Ferguson-Smith, Malcolm A.;
Brauch, Hiltrud;
Glavac, Damjan;
Neumann, Hartmut P.H.;
Tisherman, Sam;
Mulvihill, John J.;
Gross, David J.;
Shuin, Taro;
Whaley, Jean;
Seizinger, Berndt;
Kley, Nickolai

Publication type:

Article

Works matching IS 10597794 AND DT 1996 AND VI 8 AND IP 4

A novel nonsense mutation, S466Xa in exon 10 of the cystic fibrosis transmembrane conductance regulator gene.

Stop codon in exon 30 (E2069X) of β-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya.

A common base change in the promoter region of the human endothelial NO-synthase ( NQS3) gene.

Independent origin of single and double mutations in the human glucose 6-phosphate dehydrogenase gene.

A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease.

Mutation characterization of CFTR gene in 206 Northern Irish CF families: Thirty mutations, including two novel, account for ∼︁94% of CF chromosomes.

A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28).

Masthead.

A novel mutation (S558X) causing choroideremia.

Absence of PMP22 coding region mutations in CMT1A duplication patients: Further evidence supporting gene dosage as a mechanism for charcot-marie-tooth disease type 1A.

A novel mutation in the BRCA1 gene in a German early-onset breast cancer family.

A de novo duplication in 17p11.2 and a novel mutation in the P<sub>o</sub> gene in two Déjérine-Sottas syndrome patients.

A point mutation in codon 3 of connexin-32 is associated with X-linked charcot-marie-tooth neuropathy.

Ornithine transcarbamylase deficiency: Characterization of gene mutations and polymorphisms.

Crouzon syndrome: Previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.

Frameshift mutation at codon 642 of the hMLH1 gene in human endometrial cancer.

A novel missense ( E163 G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.

Mutations and polymorphisms in the human peripherin- RDS gene and their involvement in inherited retinal degeneration.

A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.

Identification of a novel mutation (A268G) in exon 8 of the HTRβ gene in a large family with thyroid hormone resistance.

A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia.

A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia.

A rapid and reliable PCR method for genotyping the ABO blood group. II: A<sup>2</sup> and O<sup>2</sup> alleles.

Identification of a novel R552Q mutation in exon 13 of the β-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.

Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.

Three novel APC gene mutations in portuguese FAP kindreds.

Two novel apolipoprotein A-IV variants in individuals with familial combined hyperlipidemia and diminished levels of lipoprotein lipase activity.

Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia.

Germline mutations in the Von Hippel-Lindau disease ( VHL) gene in families from North America, Europe, and Japan.