(Q24672499)

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Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan

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Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan (English)

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glycogen storage disease

1 reference

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author name string

S Kajihara

1

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S Matsuhashi

2

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K Yamamoto

3

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K Kido

4

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K Tsuji

5

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A Tanae

6

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S Fujiyama

7

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T Itoh

8

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K Tanigawa

9

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M Uchida

10

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language of work or name

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publication date

September 1995

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American Journal of Human Genetics

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57

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3

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549-55

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1 reference

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1 reference

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G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV

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1 reference

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1 reference

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1 reference

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1 reference

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based on heuristic

inferred from PubMed ID database lookup

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