Y418C: a novel mutation in exon 9 of the glucocere... [Hum Genet. 1994] - PubMed

Supplemental Content

Save items

Related citations in PubMed

New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P. [Hum Mol Genet. 1994]
New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P.
Uchiyama A, Tomatsu S, Kondo N, Suzuki Y, Shimozawa N, Fukuda S, Sukegawa K, Taki N, Inamori H, Orii T. Hum Mol Genet. 1994 Jul; 3(7):1183-4.
Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I. [Blood Cells Mol Dis. 2000]
Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.
Romano M, Danek GM, Baralle FE, Mazzotti R, Filocamo M. Blood Cells Mol Dis. 2000 Jun; 26(3):171-6.
Novel point mutation (W184R) in neonatal type 2 Gaucher disease. [Pediatr Dev Pathol. 2000]
Novel point mutation (W184R) in neonatal type 2 Gaucher disease.
Choy FY, Wong K, Vallance HD, Baldwin V. Pediatr Dev Pathol. 2000 Mar-Apr; 3(2):180-3.
Review Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. [Hum Mutat. 2000]
Review Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
Stone DL, Tayebi N, Orvisky E, Stubblefield B, Madike V, Sidransky E. Hum Mutat. 2000; 15(2):181-8.
Review A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease. [Blood Cells Mol Dis. 2000]
Review A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease.
Cormand B, Díaz A, Grinberg D, Chabás A, Vilageliu L. Blood Cells Mol Dis. 2000 Oct; 26(5):409-16.

See reviews... See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
Protein
Protein translation features of primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.

Recent activity

Clear Turn Off Turn On

Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient wi...
Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site.
Hum Genet. 1994 Sep ;94(3):314-5.

PubMed
Structure and expression of an inducible HSP70-encoding gene from Mus musculus.
Structure and expression of an inducible HSP70-encoding gene from Mus musculus.
Gene. 1994 Sep 2 ;146(2):273-8.

PubMed
Cost-financed mental health facility. I. Clinical care pattern in a labor union ...
Cost-financed mental health facility. I. Clinical care pattern in a labor union program.
J Nerv Ment Dis. 1975 Apr ;160(4):231-40.

PubMed
The thyroxine-binding properties of serum proteins. A competitive binding techni...
The thyroxine-binding properties of serum proteins. A competitive binding technique employing sephadex G-25.
J Endocrinol. 1975 Jun ;65(3):319-32.

PubMed
Molecular cloning of the human type VIII adenylyl cyclase.
Molecular cloning of the human type VIII adenylyl cyclase.
FEBS Lett. 1994 Aug 29 ;351(1):109-13.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site.

Source

MeSH Terms, Substances

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information