(Q28244073)

English

A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient

scientific article (publication date: November 1992)

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Statements

scholarly article

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A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient (English)

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1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

G Mosna

1

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S Fattore

2

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G Tubiello

3

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S Brocca

4

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M Trubia

5

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E Gianazza

6

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R Gatti

7

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C Danesino

8

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A Minelli

9

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M Piantanida

10

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language of work or name

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publication date

November 1992

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90

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3

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247-50

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Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/1487238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progressive inactivation of the expression of an erythroid transcriptional factor in GM- and G-CSF-dependent myeloid cell lines

1 reference

https://pubmed.ncbi.nlm.nih.gov/1487238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/1487238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Generalized gangliosidosis: beta-galactosidase deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1487238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycolipid and glycoprotein degradation

1 reference

https://pubmed.ncbi.nlm.nih.gov/1487238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The complete sequence of a full length cDNA for human liver glyceraldehyde-3-phosphate dehydrogenase: evidence for multiple mRNA species.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1487238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning, sequencing, and expression of cDNA for human beta-galactosidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1487238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1487238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1487238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/1487238

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00220071

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