Sequencing of exons 16 and 17 of the β-amyloid precursor protein gene in 14 families with early onset Alzheimer's disease fails to reveal mutations in the β-amyloid sequence

Fiona Crawford; John Hardy; Mike Mullan; Alison Goate; David Hughes; Liana Fidani; Penelope Roques; Martin Rossor; Marie Christine Chartier-Harlin

doi:10.1016/0304-3940(91)90042-R

Sequencing of exons 16 and 17 of the β-amyloid precursor protein gene in 14 families with early onset Alzheimer's disease fails to reveal mutations in the β-amyloid sequence

Fiona Crawford, John Hardy, Mike Mullan, Alison Goate, David Hughes, Liana Fidani, Penelope Roques, Martin Rossor, Marie Christine Chartier-Harlin

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

29 Scopus citations

Abstract

A mutation within exon 17 at codon 717 of the β-amyloid protein precursor (APP) gene is one cause of early onset familial Alzheimer's disease. Direct sequencing of exons 16 and 17 of the β-amyloid precursor protein gene in 14 families with familial early onset Alzheimer's disease without the known pathogenic mutation (APP717) failed to reveal other mutations within the β-amyloid sequnce in this form of the disorder.

Original language	English
Pages (from-to)	1-2
Number of pages	2
Journal	Neuroscience Letters
Volume	133
Issue number	1
DOIs	https://doi.org/10.1016/0304-3940(91)90042-R
State	Published - 25 Nov 1991
Externally published	Yes

Keywords

Alzheimer's disease
Chromosome 21
Genetics, β-Amyloid precursor protein

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Crawford, F., Hardy, J., Mullan, M., Goate, A., Hughes, D., Fidani, L., Roques, P., Rossor, M., & Chartier-Harlin, M. C. (1991). Sequencing of exons 16 and 17 of the β-amyloid precursor protein gene in 14 families with early onset Alzheimer's disease fails to reveal mutations in the β-amyloid sequence. Neuroscience Letters, 133(1), 1-2. https://doi.org/10.1016/0304-3940(91)90042-R

@article{72471dc7eeb54482b2a544135f00c1dd,

title = "Sequencing of exons 16 and 17 of the β-amyloid precursor protein gene in 14 families with early onset Alzheimer's disease fails to reveal mutations in the β-amyloid sequence",

abstract = "A mutation within exon 17 at codon 717 of the β-amyloid protein precursor (APP) gene is one cause of early onset familial Alzheimer's disease. Direct sequencing of exons 16 and 17 of the β-amyloid precursor protein gene in 14 families with familial early onset Alzheimer's disease without the known pathogenic mutation (APP717) failed to reveal other mutations within the β-amyloid sequnce in this form of the disorder.",

keywords = "Alzheimer's disease, Chromosome 21, Genetics, β-Amyloid precursor protein",

author = "Fiona Crawford and John Hardy and Mike Mullan and Alison Goate and David Hughes and Liana Fidani and Penelope Roques and Martin Rossor and Chartier-Harlin, {Marie Christine}",

note = "Funding Information: This work was supported by grants from Research into Ageing, IPSEN, the Mental Health Foundation, the Royal Society, and the Medical Research Council. The samples from the FAD series of pedigrees which were used in this study were AG06849 and AG07647 (FAD1), AG08554 and AG08526 (FAD2) and AG08554 and AG08109A (FAD4) from the Coriell Cell repository.",

year = "1991",

month = nov,

day = "25",

doi = "10.1016/0304-3940(91)90042-R",

language = "English",

volume = "133",

pages = "1--2",

journal = "Neuroscience Letters",

issn = "0304-3940",

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Crawford, F, Hardy, J, Mullan, M, Goate, A, Hughes, D, Fidani, L, Roques, P, Rossor, M & Chartier-Harlin, MC 1991, 'Sequencing of exons 16 and 17 of the β-amyloid precursor protein gene in 14 families with early onset Alzheimer's disease fails to reveal mutations in the β-amyloid sequence', Neuroscience Letters, vol. 133, no. 1, pp. 1-2. https://doi.org/10.1016/0304-3940(91)90042-R

TY - JOUR

T1 - Sequencing of exons 16 and 17 of the β-amyloid precursor protein gene in 14 families with early onset Alzheimer's disease fails to reveal mutations in the β-amyloid sequence

AU - Crawford, Fiona

AU - Hardy, John

AU - Mullan, Mike

AU - Goate, Alison

AU - Hughes, David

AU - Fidani, Liana

AU - Roques, Penelope

AU - Rossor, Martin

AU - Chartier-Harlin, Marie Christine

N1 - Funding Information: This work was supported by grants from Research into Ageing, IPSEN, the Mental Health Foundation, the Royal Society, and the Medical Research Council. The samples from the FAD series of pedigrees which were used in this study were AG06849 and AG07647 (FAD1), AG08554 and AG08526 (FAD2) and AG08554 and AG08109A (FAD4) from the Coriell Cell repository.

PY - 1991/11/25

Y1 - 1991/11/25

N2 - A mutation within exon 17 at codon 717 of the β-amyloid protein precursor (APP) gene is one cause of early onset familial Alzheimer's disease. Direct sequencing of exons 16 and 17 of the β-amyloid precursor protein gene in 14 families with familial early onset Alzheimer's disease without the known pathogenic mutation (APP717) failed to reveal other mutations within the β-amyloid sequnce in this form of the disorder.

AB - A mutation within exon 17 at codon 717 of the β-amyloid protein precursor (APP) gene is one cause of early onset familial Alzheimer's disease. Direct sequencing of exons 16 and 17 of the β-amyloid precursor protein gene in 14 families with familial early onset Alzheimer's disease without the known pathogenic mutation (APP717) failed to reveal other mutations within the β-amyloid sequnce in this form of the disorder.

KW - Alzheimer's disease

KW - Chromosome 21

KW - Genetics, β-Amyloid precursor protein

UR - http://www.scopus.com/inward/record.url?scp=0025984459&partnerID=8YFLogxK

U2 - 10.1016/0304-3940(91)90042-R

DO - 10.1016/0304-3940(91)90042-R

M3 - Article

C2 - 1791986

AN - SCOPUS:0025984459

SN - 0304-3940

VL - 133

SP - 1

EP - 2

JO - Neuroscience Letters

JF - Neuroscience Letters

IS - 1

ER -

Sequencing of exons 16 and 17 of the β-amyloid precursor protein gene in 14 families with early onset Alzheimer's disease fails to reveal mutations in the β-amyloid sequence

Abstract

Keywords

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