160 related articles for article (PubMed ID: 7513946)
21. Phosphofructokinase deficiency: recent advances in molecular biology.
Nakajima H; Hamaguchi T; Yamasaki T; Tarui S
Muscle Nerve Suppl; 1995; 3():S28-34. PubMed ID: 7603524
[TBL] [Abstract][Full Text] [Related]
22. Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C].
Yu L; Heere-Ress E; Boucher B; Defesche JC; Kastelein J; Lavoie MA; Genest J
Atherosclerosis; 1999 Sep; 146(1):125-31. PubMed ID: 10487495
[TBL] [Abstract][Full Text] [Related]
23. Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations.
Seo HC; Willems PJ; O'Brien JS
Hum Mol Genet; 1993 Aug; 2(8):1205-8. PubMed ID: 8401503
[TBL] [Abstract][Full Text] [Related]
24. Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency.
Amit R; Bashan N; Abarbanel JM; Shapira Y; Sofer S; Moses S
Muscle Nerve; 1992 Apr; 15(4):455-8. PubMed ID: 1533013
[TBL] [Abstract][Full Text] [Related]
25. Altered allosteric regulation of muscle 6-phosphofructokinase causes Tarui disease.
Brüser A; Kirchberger J; Schöneberg T
Biochem Biophys Res Commun; 2012 Oct; 427(1):133-7. PubMed ID: 22995305
[TBL] [Abstract][Full Text] [Related]
26. Late-onset muscle phosphofructokinase deficiency.
Danon MJ; Servidei S; DiMauro S; Vora S
Neurology; 1988 Jun; 38(6):956-60. PubMed ID: 2966901
[TBL] [Abstract][Full Text] [Related]
27. Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.
Verderio E; Cavadini P; Montermini L; Wang H; Lamantea E; Finocchiaro G; DiDonato S; Gellera C; Taroni F
Hum Mol Genet; 1995 Jan; 4(1):19-29. PubMed ID: 7711730
[TBL] [Abstract][Full Text] [Related]
28. Kinetic properties of erythrocyte phosphofructokinase in patients with type VII glycogenosis from two families--close similarity to liver type phosphofructokinase.
Shimizu T; Kono N; Mineo I; Sumi S; Nonaka K; Tarui S; Koyama W
J Inherit Metab Dis; 1984; 7(3):107-11. PubMed ID: 6239061
[TBL] [Abstract][Full Text] [Related]
29. An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4.
Lin Z; deMello DE; Wallot M; Floros J
Mol Genet Metab; 1998 May; 64(1):25-35. PubMed ID: 9682215
[TBL] [Abstract][Full Text] [Related]
30. Identification of aprt gene mutations induced in repair-deficient and P450-expressing CHO cells by the food-related mutagen/carcinogen, PhIP.
Wu RW; Wu EM; Thompson LH; Felton JS
Carcinogenesis; 1995 May; 16(5):1207-13. PubMed ID: 7767987
[TBL] [Abstract][Full Text] [Related]
31. Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome.
Berg MA; Guevara-Aguirre J; Rosenbloom AL; Rosenfeld RG; Francke U
Hum Mutat; 1992; 1(1):24-32. PubMed ID: 1284474
[TBL] [Abstract][Full Text] [Related]
32. Molecular basis for type 1 antithrombin deficiency: identification of two novel point mutations and evidence for a de novo splice site mutation.
Jochmans K; Lissens W; Yin T; Michiels JJ; van der Luit L; Peerlinck K; De Waele M; Liebaers I
Blood; 1994 Dec; 84(11):3742-8. PubMed ID: 7949130
[TBL] [Abstract][Full Text] [Related]
33. [Phosphofructokinase (PFK)].
Nakajima H
Nihon Rinsho; 1995 May; 53(5):1241-6. PubMed ID: 7602786
[TBL] [Abstract][Full Text] [Related]
34. Alternative splicing of the transcript encoding the human muscle isoenzyme of phosphofructokinase.
Sharma PM; Reddy GR; Babior BM; McLachlan A
J Biol Chem; 1990 Jun; 265(16):9006-10. PubMed ID: 2140567
[TBL] [Abstract][Full Text] [Related]
35. Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria.
Bruno C; Minetti C; Shanske S; Morreale G; Bado M; Cordone G; DiMauro S
Neurology; 1998 Jan; 50(1):296-8. PubMed ID: 9443500
[TBL] [Abstract][Full Text] [Related]
36. Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog.
Inal Gultekin G; Raj K; Lehman S; Hillström A; Giger U
Mol Cell Probes; 2012 Dec; 26(6):243-7. PubMed ID: 22446493
[TBL] [Abstract][Full Text] [Related]
37. McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases.
Bartram C; Edwards RH; Clague J; Beynon RJ
Hum Mol Genet; 1993 Aug; 2(8):1291-3. PubMed ID: 8401511
[TBL] [Abstract][Full Text] [Related]
38. Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred.
Toscano A; Tsujino S; Vita G; Shanske S; Messina C; Dimauro S
Muscle Nerve; 1996 Sep; 19(9):1134-7. PubMed ID: 8761269
[TBL] [Abstract][Full Text] [Related]
39. Human 6-phosphofructo-1-kinase gene has an additional intron upstream of start codon.
Valdez BC; Chen Z; Sosa MG; Younathan ES; Chang SH
Gene; 1989 Mar; 76(1):167-9. PubMed ID: 2526044
[TBL] [Abstract][Full Text] [Related]
40. Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant.
Ookawara T; Davé V; Willems P; Martin JJ; de Barsy T; Matthys E; Yoshida A
Arch Biochem Biophys; 1996 Mar; 327(1):35-40. PubMed ID: 8615693
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]