Works matching IS 10597794 AND DT 1998 AND VI 11 AND IP 4

Results: 21

Polymorphisms in the coding exons of the human luteinizing hormone receptor gene.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 333, doi. 10.1002/(SICI)1098-1004(1998)11:4<333::AID-HUMU19>3.0.CO;2-D
By:
- Wu, Shao-Ming;
- Jose, Maria;
- Hallermeier, Karen;
- Rennert, Owen M.;
- Chan, Wai-Yee
Publication type:
Article
Seven novel mutations in mut methylmalonic aciduria.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 270, doi. 10.1002/(SICI)1098-1004(1998)11:4<270::AID-HUMU3>3.0.CO;2-T
By:
- Adjalla, Charles E.;
- Hosack, Angela R.;
- Gilfix, Brian M.;
- Lamothe, Estelle;
- Sun, Sophie;
- Chan, Adrian;
- Evans, Stacey;
- Matiaszuk, Nora V.;
- Rosenblatt, David S.
Publication type:
Article
Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 295, doi. 10.1002/(SICI)1098-1004(1998)11:4<295::AID-HUMU7>3.0.CO;2-6
By:
- Cormand, Bru;
- Grinberg, Daniel;
- Gort, Laura;
- Chabás, Amparo;
- Vilageliu, Lluïsa
Publication type:
Article
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 321, doi. 10.1002/(SICI)1098-1004(1998)11:4<321::AID-HUMU10>3.0.CO;2-A
By:
- Höglund, Pia;
- Haila, Siru;
- Gustavson, Karl-Henrik;
- Taipale, Mikko;
- Hannula, Katariina;
- Popinska, Kataryna;
- Holmberg, Christer;
- Socha, Jerzy;
- de la Chapelle, Albert;
- Kere, Juha
Publication type:
Article
Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 331, doi. 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU14>3.0.CO;2-Y
By:
- Wang, Q;
- Verhoef, S;
- Tempelaars, AMP;
- Bakker, PLG;
- Vrtel, R;
- Hesseling-Janssen,, ALW;
- Nellist, M;
- Oranje, AP;
- Stroink, H;
- Lindhout, D;
- Halley, DJJ;
- van den Ouweland, AMW
Publication type:
Article
Independent occurrence of the novel Arg<sup>2163</sup> to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 334, doi. 10.1002/(SICI)1098-1004(1998)11:4<334::AID-HUMU21>3.0.CO;2-X
By:
- Theophilus, Bimal D. M.;
- Enayat, Mohammad S.;
- Higuchi, Miyoko;
- Kazazian, Haig H.;
- Antonarakis, Stylianos E.;
- Hill, Frank G. H.
Publication type:
Article
Common ancestral mutations in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1<sub>Burin</sub>) in four kindreds from Newfoundland.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 264, doi. 10.1002/(SICI)1098-1004(1998)11:4<264::AID-HUMU2>3.0.CO;2-V
By:
- Olufemi, Shodimu-Emmanuel;
- Green, Jane S.;
- Manickam, Pachiappan;
- Guru, Siradanahalli C.;
- Agarwal, Sunita K.;
- Kester, Mary Beth;
- Dong, Qihan;
- Burns, A. Lee;
- Spiegel, Allen M.;
- Marx, Stephen J.;
- Collins, Francis S.;
- Chandrasekharappa, Settara C.
Publication type:
Article
Detection of four novel mutations in the iduronate-2-sulfatase gene.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 333, doi. 10.1002/(SICI)1098-1004(1998)11:4<333::AID-HUMU18>3.0.CO;2-G
By:
- Balzano, Nicola;
- Villani, Guglielmo R. D.;
- Grosso, Michela;
- Izzo, Paola;
- Natale, Paola Di
Publication type:
Article
Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 286, doi. 10.1002/(SICI)1098-1004(1998)11:4<286::AID-HUMU6>3.0.CO;2-B
By:
- Gallione, Carol J.;
- Klaus, Daniel J.;
- Yeh, Eric Y.;
- Stenzel, Timothy T.;
- Xue, Yan;
- Anthony, Kara B.;
- McAllister, Kimberly A.;
- Baldwin, Melanie A.;
- Berg, Jonathan N.;
- Lux, Andreas;
- Smith, Joshua D.;
- Vary, Calvin P. H.;
- Craigen, William J.;
- Westermann, CJJ;
- Warner, Mary L.;
- Miller, York E.;
- Jackson, C. Eugene;
- Guttmacher, Alan E.;
- Marchuk, Douglas A.
Publication type:
Article
A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 334, doi. 10.1002/(SICI)1098-1004(1998)11:4<334::AID-HUMU20>3.0.CO;2-#
By:
- Donnelly, Andrew;
- Haan, Eric;
- Manson, James;
- Mulley, John
Publication type:
Article
Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 331, doi. 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU13>3.0.CO;2-0
By:
- Sangiuolo, F;
- Botta, A;
- Mesoraca, A;
- Servidei, S;
- Merlini, L;
- Fratta, G;
- Novelli, G;
- Dallapiccola, B
Publication type:
Article
A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 333, doi. 10.1002/(SICI)1098-1004(1998)11:4<333::AID-HUMU17>3.0.CO;2-J
By:
- Grigelioniené, G;
- Hagenäs, L;
- Eklöf, O;
- Neumeyer, L;
- Haereid, PE;
- Anvret, M
Publication type:
Article
In vitro mutations in dihydrofolate reductase that confer resistance to methotrexate: Potential for clinical application.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 259, doi. 10.1002/(SICI)1098-1004(1998)11:4<259::AID-HUMU1>3.0.CO;2-W
By:
- Blakley, Raymond L.;
- Sorrentino, Brian P.
Publication type:
Article
Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 279, doi. 10.1002/(SICI)1098-1004(1998)11:4<279::AID-HUMU5>3.0.CO;2-E
By:
- Corden, Laura D.;
- Mellerio, Jemima E.;
- Gratian, Matthew J.;
- Eady, Robin A. J.;
- Harper, John I.;
- Lacour, Marc;
- Magee, Gareth;
- Lane, E. Birgitte;
- McGrath, John A.;
- McLean, W. H. Irwin
Publication type:
Article
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 313, doi. 10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P
By:
- Di Natale, Paola;
- Balzano, Nicola;
- Esposito, Sabrina;
- Villani, Guglielmo R. D.
Publication type:
Article
A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 331, doi. 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU12>3.0.CO;2-3
By:
- Katsumata, Noriyuki;
- Tanae, Ayako;
- Shinagawa, Takashi;
- Nagashima-Miyokawa, Atsuko;
- Shimizu, Mayumi;
- Yasunaga, Toru;
- Tanaka, Toshiaki;
- Hibi, Itsuro
Publication type:
Article
Analysis of five mutations in 20 mucopolysaccharidosis type I patients: High prevalence of the W402X mutation.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 332, doi. 10.1002/(SICI)1098-1004(1998)11:4<332::AID-HUMU16>3.0.CO;2-P
By:
- Gort, Laura;
- Chabás, Amparo;
- Coll, M. Josep
Publication type:
Article
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 275, doi. 10.1002/(SICI)1098-1004(1998)11:4<275::AID-HUMU4>3.0.CO;2-L
By:
- Kim, Eun Kyung;
- Yoo, Ook Joon;
- Song, Kyu Young;
- Yoo, Han Wook;
- Choi, Sang Yong;
- Cho, Sung Won;
- Hahn, Si Houn
Publication type:
Article
Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: Evidence for a founder effect.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 306, doi. 10.1002/(SICI)1098-1004(1998)11:4<306::AID-HUMU8>3.0.CO;2-S
By:
- Shieh, Jeng-Jer;
- Lin, Ching-Yuang
Publication type:
Article
Identification of a novel point mutation (S65T) in α-galactosidase A gene in Chinese patients with Fabry disease.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 328, doi. 10.1002/(SICI)1098-1004(1998)11:4<328::AID-HUMU11>3.0.CO;2-N
By:
- Chen, Chia-Hsiang;
- Shyu, Pei-Wen;
- Wu, Su-Jen;
- Sheu, Song-Shan;
- Desnick, Robert J.;
- Hsiao, Kwang-Jen
Publication type:
Article
Mutational analysis of the cystathionine β-synthase gene: A splicing mutation, two missense mutations and an insertion in patients with homocystinuria.
Published in:
Human Mutation, 1998, v. 11, n. 4, p. 332, doi. 10.1002/(SICI)1098-1004(1998)11:4<332::AID-HUMU15>3.0.CO;2-S
By:
- Gordon, Ross B.;
- Cox, Anthony J.;
- Dawson, Paul A.;
- Emmerson, Bryan T.;
- Kraus, Jan P.;
- Dudman, Nicholas P. B.
Publication type:
Article