Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency
about
Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui diseaseFunctional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiencyFree Mg2+ concentration in the calf muscle of glycogen phosphorylase and phosphofructokinase deficiency patients assessed in different metabolic conditions by 31P MRSBiased exon/intron distribution of cryptic and de novo 3' splice sitesGlycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentionsNew insight into the role of MMP14 in metabolic balance.Genomics and genetics in the biology of adaptation to exercise.The sarcomeric M-region: a molecular command center for diverse cellular processes.PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry.
P2860
Q24563499-CBC10030-53DC-4972-AE0F-D5D4F27552C9Q24672365-0B9B2819-8042-46E1-AAD6-BCF7C6A9F609Q24814834-8CD0FEAE-B960-4804-ABAD-B713DE531646Q24817064-4275F758-D557-4F72-B7B2-0EE0CEDB6242Q35882847-91A084E8-D6F2-446A-A98C-4C6D827832ABQ37107797-4D27E93D-5D3F-4E36-B8F3-0E2218671530Q37609488-DD3094E5-553E-40C1-8021-5944A6194C24Q38471353-27C382EB-CFE3-4616-8B44-E9BC1C310A84Q39875289-18AFAA4C-326F-482D-9FDC-B9FD90F1EE54
P2860
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency
description
1994 nî lūn-bûn
@nan
1994 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Identification of three novel ...... phosphofructokinase deficiency
@ast
Identification of three novel ...... phosphofructokinase deficiency
@en
Identification of three novel ...... phosphofructokinase deficiency
@nl
type
label
Identification of three novel ...... phosphofructokinase deficiency
@ast
Identification of three novel ...... phosphofructokinase deficiency
@en
Identification of three novel ...... phosphofructokinase deficiency
@nl
prefLabel
Identification of three novel ...... phosphofructokinase deficiency
@ast
Identification of three novel ...... phosphofructokinase deficiency
@en
Identification of three novel ...... phosphofructokinase deficiency
@nl
P2093
P2860
P3181
P1476
Identification of three novel ...... phosphofructokinase deficiency
@en
P2093
P2860
P3181
P407
P577
1994-05-01T00:00:00Z