From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria-Reference-Cited by-同舟云学术

From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria

Published:2018-01-17 Issue:7 Volume:27 Page:1164-1173
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Lenglet Hugo¹²,Schmitt Caroline¹³⁴,Grange Thomas⁵,Manceau Hana¹⁶,Karboul Narjesse¹,Bouchet-Crivat Florian¹,Robreau Anne-Marie¹⁴,Nicolas Gael¹,Lamoril Jerôme⁷,Simonin Sylvie⁴,Mirmiran Arienne¹,Karim Zoubida¹,Casalino Enrique²³,Deybach Jean-Charles¹³⁴,Puy Hervé¹³⁴⁸,Peoc’h Katell¹³⁶⁸,Gouya Laurent¹³⁴⁸

Affiliation:

1. UMRs 1149, Centre de Recherche sur l’Inflammation, Institut National de la Santé et de la Recherche Médicale, F-75018 Paris, France

2. Département des Urgences, Assistance Publique-Hôpitaux de Paris, HUPNVS, Hôpital Bichat, F-75018 Paris, France

3. Université Paris Diderot, F-75018 Paris, France

4. Centre Français des Porphyries, Assistance Publique-Hôpitaux de Paris, HUPNVS, Hôpital Louis Mourier, F-92701 Colombes, France

5. INSERM UMR_S1048 Laboratory for Vascular Translational Science (LVTS) Université Paris Diderot, F-75018 Paris, France

6. Laboratoire de Biochimie, Assistance Publique-Hôpitaux de Paris, HUPNVS, Hôpital Beaujon, 92110 Clichy, France and DHU Unity

7. Département de Génétique, Assistance Publique-Hôpitaux de Paris, HUPNVS, Hôpital Bichat, F-75018 Paris, France

8. Laboratory of Excellence GR-Ex, F-75015 Paris, France

Funder

French National Research Agency

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/27/7/1164/24398860/ddy030.pdf

Reference34 articles.

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3. Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis;Gu;Hum. Genet,1994

4. Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene;Floderus;Clin. Genet,2002

5. Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients;Schneider-Yin;Hum. Hered,2002

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