Van gen naar ziekte; Fanconi-anemie

Ch M. Zwaan; H. Joenje

Van gen naar ziekte; Fanconi-anemie

Translated title of the contribution: From gene to disease; Fanconi anaemia

Ch M. Zwaan
, H. Joenje

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

Abstract

Fanconi anaemia (FA) is an autosomal recessive hereditary disease featuring diverse clinical symptoms and a cellular hypersensitivity to crosslinking agents. FA patients suffer from developmental abnormalities, progressive anaemia and an increased risk of developing cancer. FA is associated with mutations in one of the group of seven FA genes identified to date. FA genes encode proteins that control a molecular pathway which ensures an adequate defence against certain types of genomic instability and the associated risk of developing cancer. DNA diagnostics is possible.

Translated title of the contribution	From gene to disease; Fanconi anaemia
Original language	Dutch
Pages (from-to)	342-344
Number of pages	3
Journal	Nederlands Tijdschrift voor Geneeskunde
Volume	147
Issue number	8
Publication status	Published - 22 Feb 2003
Externally published	Yes

Cite this

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title = "Van gen naar ziekte; Fanconi-anemie",

abstract = "Fanconi anaemia (FA) is an autosomal recessive hereditary disease featuring diverse clinical symptoms and a cellular hypersensitivity to crosslinking agents. FA patients suffer from developmental abnormalities, progressive anaemia and an increased risk of developing cancer. FA is associated with mutations in one of the group of seven FA genes identified to date. FA genes encode proteins that control a molecular pathway which ensures an adequate defence against certain types of genomic instability and the associated risk of developing cancer. DNA diagnostics is possible.",

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year = "2003",

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pages = "342--344",

journal = "Nederlands Tijdschrift voor Geneeskunde",

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TY - JOUR

T1 - Van gen naar ziekte; Fanconi-anemie

AU - Zwaan, Ch M.

AU - Joenje, H.

PY - 2003/2/22

Y1 - 2003/2/22

N2 - Fanconi anaemia (FA) is an autosomal recessive hereditary disease featuring diverse clinical symptoms and a cellular hypersensitivity to crosslinking agents. FA patients suffer from developmental abnormalities, progressive anaemia and an increased risk of developing cancer. FA is associated with mutations in one of the group of seven FA genes identified to date. FA genes encode proteins that control a molecular pathway which ensures an adequate defence against certain types of genomic instability and the associated risk of developing cancer. DNA diagnostics is possible.

AB - Fanconi anaemia (FA) is an autosomal recessive hereditary disease featuring diverse clinical symptoms and a cellular hypersensitivity to crosslinking agents. FA patients suffer from developmental abnormalities, progressive anaemia and an increased risk of developing cancer. FA is associated with mutations in one of the group of seven FA genes identified to date. FA genes encode proteins that control a molecular pathway which ensures an adequate defence against certain types of genomic instability and the associated risk of developing cancer. DNA diagnostics is possible.

UR - https://www.scopus.com/pages/publications/0037460580

M3 - Artikel

C2 - 12661120

AN - SCOPUS:0037460580

SN - 0028-2162

VL - 147

SP - 342

EP - 344

JO - Nederlands Tijdschrift voor Geneeskunde

JF - Nederlands Tijdschrift voor Geneeskunde

IS - 8

ER -

Van gen naar ziekte; Fanconi-anemie

Abstract

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