Cystic fibrosis diagnosed by molecular genetic investigation in the mother of a patient with cystic fibrosis

G A Gregory; D A Woolf; R McMahon; E R Maher; D E Barton

Cystic fibrosis diagnosed by molecular genetic investigation in the mother of a patient with cystic fibrosis

G A Gregory, D A Woolf, R McMahon, E R Maher, D E Barton

Addenbrooke's Hospital

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

1 Citation (Scopus)

Abstract

Cystic fibrosis was diagnosed in the 46 year old mother of an index patient as a result of molecular genetic analysis, illustrating the need to consider the diagnosis at any age in the close relatives of patients with cystic fibrosis.

Original language	English
Pages (from-to)	96-97
Number of pages	2
Journal	Thorax
Volume	52
Issue number	1
Publication status	Published - Jan 1997
Externally published	Yes

Keywords

Cystic Fibrosis
Female
Humans
Middle Aged
Mutation
Pedigree
cystic fibrosis
molecular genetic analysis

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title = "Cystic fibrosis diagnosed by molecular genetic investigation in the mother of a patient with cystic fibrosis",

abstract = "Cystic fibrosis was diagnosed in the 46 year old mother of an index patient as a result of molecular genetic analysis, illustrating the need to consider the diagnosis at any age in the close relatives of patients with cystic fibrosis.",

keywords = "Cystic Fibrosis, Female, Humans, Middle Aged, Mutation, Pedigree, cystic fibrosis, molecular genetic analysis",

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year = "1997",

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language = "English",

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T1 - Cystic fibrosis diagnosed by molecular genetic investigation in the mother of a patient with cystic fibrosis

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AU - Woolf, D A

AU - McMahon, R

AU - Maher, E R

AU - Barton, D E

PY - 1997/1

Y1 - 1997/1

N2 - Cystic fibrosis was diagnosed in the 46 year old mother of an index patient as a result of molecular genetic analysis, illustrating the need to consider the diagnosis at any age in the close relatives of patients with cystic fibrosis.

AB - Cystic fibrosis was diagnosed in the 46 year old mother of an index patient as a result of molecular genetic analysis, illustrating the need to consider the diagnosis at any age in the close relatives of patients with cystic fibrosis.

KW - Cystic Fibrosis

KW - Female

KW - Humans

KW - Middle Aged

KW - Mutation

KW - Pedigree

KW - cystic fibrosis

KW - molecular genetic analysis

UR - https://www.scopus.com/pages/publications/0031022903

M3 - Article

C2 - 9039249

SN - 0040-6376

VL - 52

SP - 96

EP - 97

JO - Thorax

JF - Thorax

IS - 1

ER -

Cystic fibrosis diagnosed by molecular genetic investigation in the mother of a patient with cystic fibrosis

Abstract

Keywords

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