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

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

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

Ornithine transcarbamylase deficiency: Characterization of gene mutations and polymorphisms.

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

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.

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.

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.

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.

Three novel APC gene mutations in portuguese FAP kindreds.

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.