(Q34294742)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

title

Molecular characterization of galactosemia (type 1) mutations in Japanese (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

0 references

8

1 reference

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20 October 2019

author name string

Ashino J

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Okano Y

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Suyama I

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Yamazaki T

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Yoshino M

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Furuyama J

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Lin HC

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Isshiki G

9

1 reference

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20 October 2019

publication date

1 January 1995

1 reference

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20 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550229%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

volume

6

1 reference

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20 October 2019

issue

1

1 reference

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20 October 2019

page(s)

36-43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550229%20AND%20SRC:MED&resulttype=core&format=json

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

20 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060108

7 January 2021

The CpG dinucleotide and human genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060108

7 January 2021

Screening for phenylketonuria mutations by DNA amplification with the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060108

7 January 2021

Nucleotide sequences of the gal E gene and the gal T gene of E. coli

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060108

7 January 2021

The human galactose-1-phosphate uridyltransferase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060108

7 January 2021

Newborn screening for galactosemia and other galactose metabolic defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060108

7 January 2021

On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060108

7 January 2021

Electrophoretic Variation of Galactose-1-Phosphate Uridyltransferase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060108

7 January 2021

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060108

7 January 2021

Frequency and distribution of phenylketonuric mutations in Orientals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060108

7 January 2021

Genetic basis of galactosemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060108

7 January 2021

Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060108

7 January 2021

Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060108

7 January 2021

Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060108

7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060108

7 January 2021

Primary structure of the Saccharomyces cerevisiae GAL7 gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060108

7 January 2021

The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion at the acceptor site of intron 5 of the beta-hexosaminidase alpha gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380060108

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380060108

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7550229%20AND%20SRC:MED&resulttype=core&format=json

release_v5bioteyrfejfcyoudgj4tfjsu

20 October 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/v5bioteyrfejfcyoudgj4tfjsu

24 November 2022

mapped directly with Wikidata item

1 reference