Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 A four-nucleotide insertion at the E1 alpha gene in a patient with pyruvate dehydrogenase deficiency.

× No keyword cloud information.

20 in total

1. Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy.

Authors: S Miyabayashi; T Ito; K Narisawa; K Iinuma; K Tada
Journal: Eur J Pediatr Date: 1985-03 Impact factor: 3.183

2. Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.

Authors: R K Saiki; S Scharf; F Faloona; K B Mullis; G T Horn; H A Erlich; N Arnheim
Journal: Science Date: 1985-12-20 Impact factor: 47.728

3. Cloning of a defective gene encoding the pyruvate dehydrogenase E1 alpha subunit from a patient with its deficiency.

Authors: H Endo; S Miyabayashi; K Hasegawa; K Narisawa; K Tada; Y Kagawa; S Ohta
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

4. X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex.

Authors: R M Brown; H H Dahl; G K Brown
Journal: Genomics Date: 1989-02 Impact factor: 5.736

5. Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications.

Authors: H Towbin; T Staehelin; J Gordon
Journal: Proc Natl Acad Sci U S A Date: 1979-09 Impact factor: 11.205

6. Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex.

Authors: B H Robinson; H MacMillan; R Petrova-Benedict; W G Sherwood
Journal: J Pediatr Date: 1987-10 Impact factor: 4.406

7. Titration of variant DNA sequences differing by a single point-mutation by selective dot-blot hybridization with synthetic oligonucleotides.

Authors: M Nicoloso; H Q Liang; J P Bachellerie
Journal: Biochem Biophys Res Commun Date: 1989-03-31 Impact factor: 3.575

8. A defect in pyruvate decarboxylase in a child with an intermittent movement disorder.

Authors: J P Blass; J Avigan; B W Uhlendorf
Journal: J Clin Invest Date: 1970-03 Impact factor: 14.808

9. Characterization of cDNAs encoding human pyruvate dehydrogenase alpha subunit.

Authors: L Ho; I D Wexler; T C Liu; T J Thekkumkara; M S Patel
Journal: Proc Natl Acad Sci U S A Date: 1989-07 Impact factor: 11.205

10. Structural organization of the gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex.

Authors: C Maragos; W M Hutchison; K Hayasaka; G K Brown; H H Dahl
Journal: J Biol Chem Date: 1989-07-25 Impact factor: 5.157

5 in total

Review 1. The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Authors: Kavi P Patel; Thomas W O'Brien; Sankarasubramon H Subramony; Jonathan Shuster; Peter W Stacpoole
Journal: Mol Genet Metab Date: 2011-10-07 Impact factor: 4.797

2. The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Authors: Kavi P Patel; Thomas W O'Brien; Sankarasubramon H Subramony; Jonathan Shuster; Peter W Stacpoole
Journal: Mol Genet Metab Date: 2012-07 Impact factor: 4.797

Review 3. Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.

Authors: H H Dahl
Journal: Am J Hum Genet Date: 1995-03 Impact factor: 11.025

4. Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein.

Authors: M Ito; A H Huq; E Naito; T Saijo; E Takeda; Y Kuroda
Journal: J Inherit Metab Dis Date: 1992 Impact factor: 4.982

5. Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.

Authors: K Chun; N MacKay; R Petrova-Benedict; A Federico; A Fois; D E Cole; E Robertson; B H Robinson
Journal: Am J Hum Genet Date: 1995-03 Impact factor: 11.025

5 in total