Works matching IS 10597794 AND DT 1997 AND VI 9 AND IP 1

Results: 23

A nonsense mutation due to a single base insertion in the 3′-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 37, doi. 10.1002/(SICI)1098-1004(1997)9:1<37::AID-HUMU6>3.0.CO;2-M

By:

Shen, Jianjun;
Bao, Yong;
Chen, Yuan-Tsong

Publication type:

Article

Probable identity by descent and discovery of familial relationships by means of a rare β-thalassemia haplotype.

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 86, doi. 10.1002/(SICI)1098-1004(1997)9:1<86::AID-HUMU20>3.0.CO;2-K

By:

Martino, Tina;
Kaplan, Feige;
Diamond, Stanley;
Oppenheim, Ariella;
Scriver, Charles R.

Publication type:

Article

Phenylketonuria in Spanish Gypsies: Prevalence of the IVS10nt546 mutation on haplotype 34.

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 66, doi. 10.1002/(SICI)1098-1004(1997)9:1<66::AID-HUMU13>3.0.CO;2-N

By:

Desviat, Lourdes R.;
Pérez, Belén;
Ugarte, Magdalena

Publication type:

Article

Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis.

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 7, doi. 10.1002/(SICI)1098-1004(1997)9:1<7::AID-HUMU2>3.0.CO;2-8

By:

van der Luijt, Rob. B.;
Khan, P. Meera;
Vasen, Hans F. A.;
Tops, Carli M. J.;
van Leeuwen-Cornelisse, Inge S. J.;
Wijnen, Juul Th.;
van der Klift, Heleen M.;
Plug, Rob J.;
Griffioen, Gerrit;
Fodde, Riccardo

Publication type:

Article

Three novel mutations in the coproporphyrinogen oxidase gene.

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 78, doi. 10.1002/(SICI)1098-1004(1997)9:1<78::AID-HUMU17>3.0.CO;2-M

By:

Lamoril, Jérôme;
Deybach, Jean-Charles;
Puy, Hervé;
Grandchamp, Bernard;
Nordmann, Yves

Publication type:

Article

A novel splice site mutation (156 + 1G→A) in the TSC2 gene.

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 64, doi. 10.1002/(SICI)1098-1004(1997)9:1<64::AID-HUMU12>3.0.CO;2-N

By:

Kumar, A;
Kandt, RS;
Wolpert, C;
Roses, AD;
Pericak-Vance, MA;
Gilbert, JR

Publication type:

Article

CTG trinucleotide repeat lengths in myotonic dystrophy alleles of patients with senile cataracts.

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 95, doi. 10.1002/(SICI)1098-1004(1997)9:1<95::AID-HUMU23>3.0.CO;2-J

By:

Aves, Stephen J.;
Tongue, Nicholas;
Findlay, Katharine L. G.;
Rich, Walter J. C. C.;
West, Sarah P.

Publication type:

Article

Mutations in mut methylmalonic acidemia: Clinical and enzymatic correlations.

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 1, doi. 10.1002/(SICI)1098-1004(1997)9:1<1::AID-HUMU1>3.0.CO;2-E

By:

Ledley, Fred D.;
Rosenblatt, David S.

Publication type:

Article

Novel mutation of the myelin P0 gene in a CMT1B family.

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 74, doi. 10.1002/(SICI)1098-1004(1997)9:1<74::AID-HUMU16>3.0.CO;2-M

By:

Sorour, E;
MacMillan, J;
Upadhyaya, M

Publication type:

Article

Identification of common polymorphisms in the coding sequence of the human MSH receptor (MCIR) with possible biological effects.

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 30, doi. 10.1002/(SICI)1098-1004(1997)9:1<30::AID-HUMU5>3.0.CO;2-T

By:

Koppula, Sandhya V.;
Robbins, Linda S.;
Lu, Dongsi;
Baack, Eric;
White, Clifton R.;
Swanson, Neil A.;
Cone, Roger D.

Publication type:

Article

Two new mutations in exon 3 of the NDP gene: S73X and S101F associated with severe and less severe ocular phenotype, respectively.

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 53, doi. 10.1002/(SICI)1098-1004(1997)9:1<53::AID-HUMU9>3.0.CO;2-Q

By:

Walker, Jennifer L.;
Dixon, Joanne;
Fenton, Colin R.;
Hungerford, John;
Lynch, Sally A.;
Stenhouses, Susan A. R.;
Christian, A;
Craig, Ian W.

Publication type:

Article

A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV.

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 62, doi. 10.1002/(SICI)1098-1004(1997)9:1<62::AID-HUMU11>3.0.CO;2-N

By:

Anderson, David W.;
Thakker-Varia, Smita;
Tromp, Gerard;
Kuivaniemi, Helena;
Stolle, Catherine A.

Publication type:

Article

New splicing mutation in exon 5-6 of the p53-tumor suppressor gene in a malignant schwannoma.

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 91, doi. 10.1002/(SICI)1098-1004(1997)9:1<91::AID-HUMU22>3.0.CO;2-J

By:

Schneider-Stock, Regine;
Oda, Yoshinao;
Roessner, Albert

Publication type:

Article

Novel missense mutation in the coagulation factor IX catalytic domain associated with moderate disease.

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 72, doi. 10.1002/(SICI)1098-1004(1997)9:1<72::AID-HUMU15>3.0.CO;2-M

By:

Bartholomew, Dennis;
Abshire, Thomas;
Fries, Melissa;
Smith, Alice

Publication type:

Article

Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16.

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 23, doi. 10.1002/(SICI)1098-1004(1997)9:1<23::AID-HUMU4>3.0.CO;2-Q

By:

Au, Kit-Sing;
Rodriguez, Joseph A.;
Rodriguez, Estanislado;
Dobyns, William B.;
Delgado, Mauricio R.;
Northrup, Hope

Publication type:

Article

Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis.

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 83, doi. 10.1002/(SICI)1098-1004(1997)9:1<83::AID-HUMU19>3.0.CO;2-L

By:

Jacobson, Daniel R.;
Pan, Timothy;
Kyle, Robert A.;
Buxbaum, Joel N.

Publication type:

Article

Mutation analysis of the connexin 32 (Cx32) gene in charcot-marie-tooth neuropathy type 1: Identification of five new mutations.

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 47, doi. 10.1002/(SICI)1098-1004(1997)9:1<47::AID-HUMU8>3.0.CO;2-M

By:

Nelis, Eva;
Simokovic, Sandra;
Timmerman, Vincent;
Löfgren, Ann;
Backhovens, Hubert;
De Jonghe, Peter;
Martin, Jean-Jacques;
Van Broeckhoven, Christine

Publication type:

Article

Mutations of the androgen receptor gene in patients with complete androgen insensitivity.

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 57, doi. 10.1002/(SICI)1098-1004(1997)9:1<57::AID-HUMU10>3.0.CO;2-O

By:

Jakubiczka, Sibylle;
Nedel, Stefanie;
Werder, Edmond A.;
Schleiermacher, Engelbert;
Theile, Ursel;
Wolff, Gerhard;
Wieacker, Peter

Publication type:

Article

Phenylketonuria splice mutation (EXON6nt-96Ag) masquerading as missense mutation (Y204C).

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 88, doi. 10.1002/(SICI)1098-1004(1997)9:1<88::AID-HUMU21>3.0.CO;2-K

By:

Ellingsen, Ståle;
Knappskog, Per M.;
Eiken, Hans Geir

Publication type:

Article

A novel missense point mutation ( S134N) of the Cu/Zn superoxide dismutase gene in a patient with familal motor neuron disease.

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 69, doi. 10.1002/(SICI)1098-1004(1997)9:1<69::AID-HUMU14>3.0.CO;2-N

By:

Watanabe, M;
Aoki, M;
Abe, K;
Shoji, M;
Iizuka, T;
Ikeda, Y;
Hirai, S;
Kurokawa, K;
Kato, T;
Sasaki, H;
Itoyama, Y

Publication type:

Article

Two extremes of the clinical spectrum of glycogen storage disease type II in one family: A matter of genotype.

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 17, doi. 10.1002/(SICI)1098-1004(1997)9:1<17::AID-HUMU3>3.0.CO;2-M

By:

Kroos, Marian A.;
Van der Kraan, Magna;
Van Diggelen, Otto P.;
Kleijer, Wim J.;
Reuser, Arnold J. J.

Publication type:

Article

Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine β-synthase protein in two French pyridoxine-responsive homocystinuria patients.

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 81, doi. 10.1002/(SICI)1098-1004(1997)9:1<81::AID-HUMU18>3.0.CO;2-L

By:

Aral, Bernard;
Coudé, Marie;
London, Jacqueline;
Aupetit, Joelle;
Chassé, Jean-François;
Zabot, Marie-Thérèse;
Chadefaux-Vekemans, Bernadette;
Kamoun, Pierre

Publication type:

Article

Simultaneous genotyping for all three known structural mutations in the human mannose-binding lectin gene.

Published in:

Human Mutation, 1997, v. 9, n. 1, p. 41, doi. 10.1002/(SICI)1098-1004(1997)9:1<41::AID-HUMU7>3.0.CO;2-S

By:

Jack, Dominic;
Bidwell, Jeffrey;
Turner, Malcolm;
Wood, Nigel

Publication type:

Article