(Q73497770)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9217217%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Identification of two novel and four uncommon missense mutations among chinese Gaucher disease patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9217217%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

F Y Choy

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9217217%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

M L Humphries

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9217217%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

H Shi

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9217217%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

publication date

1 August 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9217217%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

4 November 2019

number of pages

7

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9217217%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

volume

71

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9217217%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9217217%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

page(s)

172-178

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9217217%20AND%20SRC:MED&resulttype=core&format=json

Gaucher disease: new molecular approaches to diagnosis and treatment

4 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970808%2971%3A2%3C172%3A%3AAID-AJMG10%3E3.0.CO%3B2-B

The facile detection of the nt 1226 mutation of glucocerebrosidase by 'mismatched' PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970808%2971%3A2%3C172%3A%3AAID-AJMG10%3E3.0.CO%3B2-B

Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970808%2971%3A2%3C172%3A%3AAID-AJMG10%3E3.0.CO%3B2-B

Five new Gaucher disease mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970808%2971%3A2%3C172%3A%3AAID-AJMG10%3E3.0.CO%3B2-B

METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970808%2971%3A2%3C172%3A%3AAID-AJMG10%3E3.0.CO%3B2-B

Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970808%2971%3A2%3C172%3A%3AAID-AJMG10%3E3.0.CO%3B2-B

Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970808%2971%3A2%3C172%3A%3AAID-AJMG10%3E3.0.CO%3B2-B

DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970808%2971%3A2%3C172%3A%3AAID-AJMG10%3E3.0.CO%3B2-B

A new missense mutation in glucocerebrosidase exon 9 of a non-Jewish Caucasian type 1 Gaucher disease patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970808%2971%3A2%3C172%3A%3AAID-AJMG10%3E3.0.CO%3B2-B

Prevalent and rare mutations among Gaucher patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970808%2971%3A2%3C172%3A%3AAID-AJMG10%3E3.0.CO%3B2-B

The human glucocerebrosidase gene and pseudogene: structure and evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970808%2971%3A2%3C172%3A%3AAID-AJMG10%3E3.0.CO%3B2-B

Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970808%2971%3A2%3C172%3A%3AAID-AJMG10%3E3.0.CO%3B2-B

Mutation screening of 17 Japanese patients with neuropathic Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970808%2971%3A2%3C172%3A%3AAID-AJMG10%3E3.0.CO%3B2-B

Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970808%2971%3A2%3C172%3A%3AAID-AJMG10%3E3.0.CO%3B2-B

Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970808%2971%3A2%3C172%3A%3AAID-AJMG10%3E3.0.CO%3B2-B

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970808%2971%3A2%3C172%3A%3AAID-AJMG10%3E3.0.CO%3B2-B

DNA sequencing with chain-terminating inhibitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970808%2971%3A2%3C172%3A%3AAID-AJMG10%3E3.0.CO%3B2-B

Genotype-phenotype pitfalls in Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970808%2971%3A2%3C172%3A%3AAID-AJMG10%3E3.0.CO%3B2-B

A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970808%2971%3A2%3C172%3A%3AAID-AJMG10%3E3.0.CO%3B2-B

Prediction of severity of Gaucher's disease by identification of mutations at DNA level

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970808%2971%3A2%3C172%3A%3AAID-AJMG10%3E3.0.CO%3B2-B

10.1002/(SICI)1096-8628(19970808)71:2<172::AID-AJMG10>3.0.CO;2-B

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9217217%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference