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

Allbwn ymchwil: Cyfraniad at gyfnodolyn › Erthygl › adolygiad gan gymheiriaid

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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.

Iaith wreiddiol	Saesneg
Tudalennau (o-i)	96-97
Nifer y tudalennau	2
Cyfnodolyn	Thorax
Cyfrol	52
Rhif cyhoeddi	1
Statws	Cyhoeddwyd - Ion 1997
Cyhoeddwyd yn allanol	Ie

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@article{077588fd46614e94955ab446f82f9f13,

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",

author = "Gregory, \{G A\} and Woolf, \{D A\} and R McMahon and Maher, \{E R\} and Barton, \{D E\}",

year = "1997",

month = jan,

language = "English",

volume = "52",

pages = "96--97",

journal = "Thorax",

issn = "0040-6376",

publisher = "BMJ Group",

number = "1",

}

TY - JOUR

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

AU - Gregory, G A

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

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