Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions

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E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.The sarcomeric M-region: a molecular command center for diverse cellular processes.

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P2860

Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions

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1996 nî lūn-bûn

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Glycogenosis type VII (Tarui d ...... resulting in intron retentions

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P2860

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 disease

Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency

Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1

Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

Human 6-phosphofructo-1-kinase gene has an additional intron upstream of start codon

Cloning and expression of a human muscle phosphofructokinase cDNA

A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease)

Structure of the entire human muscle phosphofructokinase-encoding gene: a two-promoter system

Cloning of human muscle phosphofructokinase cDNA

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Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions

about

P2860

P2860

Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions

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