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Items: 1 to 20 of 97

1.

Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase.

Kluge C, Brecevic L, Heizmann CW, Blau N, Thöny B.

Eur J Biochem. 1996 Sep 1;240(2):477-84. Erratum in: Eur J Biochem 1996 Oct 15;241(2):697.

2.

Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.

Oppliger T, Thöny B, Kluge C, Matasovic A, Heizmann CW, Ponzone A, Spada M, Blau N.

Hum Mutat. 1997;10(1):25-35.

PMID:
9222757
3.
4.

Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS.

Blau N, Scherer-Oppliger T, Baumer A, Riegel M, Matasovic A, Schinzel A, Jaeken J, Thöny B.

Hum Mutat. 2000;16(1):54-60.

PMID:
10874306
5.
6.

A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia.

Ashida A, Owada M, Hatakeyama K.

Genomics. 1994 Nov 15;24(2):408-10. No abstract available.

PMID:
7698774
7.
9.

Human estrogen receptor-like 1 (ESRL1) gene: genomic organization, chromosomal localization, and promoter characterization.

Shi H, Shigeta H, Yang N, Fu K, O'Brian G, Teng CT.

Genomics. 1997 Aug 15;44(1):52-60.

PMID:
9286700
10.

Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme.

Thöny B, Leimbacher W, Bürgisser D, Heizmann CW.

Biochem Biophys Res Commun. 1992 Dec 30;189(3):1437-43.

PMID:
1282802
11.
12.

Mapping and characterization of the mouse and human SS18 genes, two human SS18-like genes and a mouse Ss18 pseudogene.

de Bruijn DR, Kater-Baats E, Eleveld M, Merkx G, Geurts Van Kessel A.

Cytogenet Cell Genet. 2001;92(3-4):310-9.

PMID:
11435705
13.

Genomic organization and chromosomal localization of a novel human hepatic dihydrodiol dehydrogenase with high affinity bile acid binding.

Lou H, Hammond L, Sharma V, Sparkes RS, Lusis AJ, Stolz A.

J Biol Chem. 1994 Mar 18;269(11):8416-22.

14.

Cloning and characterization of ZNF189, a novel human Krüppel-like zinc finger gene localized to chromosome 9q22-q31.

Odeberg J, Røsok O, Gudmundsson GH, Ahmadian A, Roshani L, Williams C, Larsson C, Pontén F, Uhlén M, Asheim HC, Lundeberg J.

Genomics. 1998 Jun 1;50(2):213-21.

PMID:
9653648
15.

Genomic structure and chromosomal mapping of the nuclear orphan receptor ROR gamma (RORC) gene.

Medvedev A, Chistokhina A, Hirose T, Jetten AM.

Genomics. 1997 Nov 15;46(1):93-102.

PMID:
9403063
16.

Molecular cloning of the gene for human leukotriene C4 synthase. Organization, nucleotide sequence, and chromosomal localization to 5q35.

Penrose JF, Spector J, Baldasaro M, Xu K, Boyce J, Arm JP, Austen KF, Lam BK.

J Biol Chem. 1996 May 10;271(19):11356-61.

17.

Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC).

Iacobazzi V, Ventura M, Fiermonte G, Prezioso G, Rocchi M, Palmieri F.

Cytogenet Cell Genet. 2001;93(1-2):40-2.

PMID:
11474176
18.

The IL-9 receptor gene (IL9R): genomic structure, chromosomal localization in the pseudoautosomal region of the long arm of the sex chromosomes, and identification of IL9R pseudogenes at 9qter, 10pter, 16pter, and 18pter.

Kermouni A, Van Roost E, Arden KC, Vermeesch JR, Weiss S, Godelaine D, Flint J, Lurquin C, Szikora JP, Higgs DR, et al.

Genomics. 1995 Sep 20;29(2):371-82.

PMID:
8666384
19.

Genomic organization, 5'-flanking region, and chromosomal localization of the human RGS3 gene.

Chatterjee TK, Eapen A, Kanis AB, Fisher RA.

Genomics. 1997 Oct 15;45(2):429-33.

PMID:
9344672
20.

Genomic structure, chromosomal localization, and expression of human cathepsin W.

Wex T, Levy B, Smeekens SP, Ansorge S, Desnick RJ, Bromme D.

Biochem Biophys Res Commun. 1998 Jul 20;248(2):255-61.

PMID:
9675123

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