A novel point mutation (D380A) and a rare deletion (1255dei55) in the glucocerebrosidase gene causing gaucher's disease

Andrew J. Walley; Ann Harris

doi:10.1093/hmg/2.10.1737

A novel point mutation (D380A) and a rare deletion (1255dei55) in the glucocerebrosidase gene causing gaucher's disease

Andrew J. Walley^*, Ann Harris

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

21 Scopus citations

Original language	English (US)
Pages (from-to)	1737-1738
Number of pages	2
Journal	Human molecular genetics
Volume	2
Issue number	10
DOIs	https://doi.org/10.1093/hmg/2.10.1737
State	Published - Oct 1993

ASJC Scopus subject areas

Molecular Biology
Genetics
Genetics(clinical)

Access to Document

10.1093/hmg/2.10.1737

Cite this

@article{ee630ceb9663441cb39484c108773364,

title = "A novel point mutation (D380A) and a rare deletion (1255dei55) in the glucocerebrosidase gene causing gaucher's disease",

author = "Walley, {Andrew J.} and Ann Harris",

note = "Funding Information: We would like to thank Dr A.H.Fensom for helpful discussions, Dr J.M.Kirk for the amniocentesis-derived fibroblast cell line, Professor T.Und for provision of blood samples and clinical information and Mrs M.Fitchett for karyotype analysis. This work was funded by the Medical Research Council.",

year = "1993",

month = oct,

doi = "10.1093/hmg/2.10.1737",

language = "English (US)",

volume = "2",

pages = "1737--1738",

journal = "Human molecular genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

number = "10",

}

TY - JOUR

T1 - A novel point mutation (D380A) and a rare deletion (1255dei55) in the glucocerebrosidase gene causing gaucher's disease

AU - Walley, Andrew J.

AU - Harris, Ann

N1 - Funding Information: We would like to thank Dr A.H.Fensom for helpful discussions, Dr J.M.Kirk for the amniocentesis-derived fibroblast cell line, Professor T.Und for provision of blood samples and clinical information and Mrs M.Fitchett for karyotype analysis. This work was funded by the Medical Research Council.

PY - 1993/10

Y1 - 1993/10

UR - http://www.scopus.com/inward/record.url?scp=0027371940&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027371940&partnerID=8YFLogxK

U2 - 10.1093/hmg/2.10.1737

DO - 10.1093/hmg/2.10.1737

M3 - Article

C2 - 8268935

AN - SCOPUS:0027371940

SN - 0964-6906

VL - 2

SP - 1737

EP - 1738

JO - Human molecular genetics

JF - Human molecular genetics

IS - 10

ER -

A novel point mutation (D380A) and a rare deletion (1255dei55) in the glucocerebrosidase gene causing gaucher's disease

ASJC Scopus subject areas

Access to Document

Other files and links

Cite this