A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency

a case report.

AF Dessein, M Fontaine, Brage Storstein Andresen, N Gregersen, M Brivet, D Rabier, S Napuri-Gouel , D Dobbelaere, K Mention-Mulliez , A Martin-Ponthieu , G Briand, DS Millington, C Vianey-Saban, RJA Wanders, J Vamecq

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

OriginalsprogEngelsk
TidsskriftOrphanet Journal of Rare Diseases
Vol/bind5
Udgave nummer26
ISSN1750-1172
DOI
StatusUdgivet - 2010

Citer dette

Dessein, AF ; Fontaine, M ; Andresen, Brage Storstein ; Gregersen, N ; Brivet, M ; Rabier, D ; Napuri-Gouel , S ; Dobbelaere, D ; Mention-Mulliez , K ; Martin-Ponthieu , A ; Briand, G ; Millington, DS ; Vianey-Saban, C ; Wanders, RJA ; Vamecq, J. / A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency : a case report. I: Orphanet Journal of Rare Diseases. 2010 ; Bind 5, Nr. 26.
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title = "A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.",
author = "AF Dessein and M Fontaine and Andresen, {Brage Storstein} and N Gregersen and M Brivet and D Rabier and S Napuri-Gouel and D Dobbelaere and K Mention-Mulliez and A Martin-Ponthieu and G Briand and DS Millington and C Vianey-Saban and RJA Wanders and J Vamecq",
year = "2010",
doi = "10.1186/1750-1172-5-26",
language = "English",
volume = "5",
journal = "Orphanet Journal of Rare Diseases",
issn = "1750-1172",
publisher = "BioMed Central",
number = "26",

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Dessein, AF, Fontaine, M, Andresen, BS, Gregersen, N, Brivet, M, Rabier, D, Napuri-Gouel , S, Dobbelaere, D, Mention-Mulliez , K, Martin-Ponthieu , A, Briand, G, Millington, DS, Vianey-Saban, C, Wanders, RJA & Vamecq, J 2010, 'A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.', Orphanet Journal of Rare Diseases, bind 5, nr. 26. https://doi.org/10.1186/1750-1172-5-26

A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency : a case report. / Dessein, AF; Fontaine, M; Andresen, Brage Storstein; Gregersen, N; Brivet, M; Rabier, D; Napuri-Gouel , S; Dobbelaere, D; Mention-Mulliez , K; Martin-Ponthieu , A; Briand, G; Millington, DS; Vianey-Saban, C; Wanders, RJA; Vamecq, J.

I: Orphanet Journal of Rare Diseases, Bind 5, Nr. 26, 2010.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency

T2 - a case report.

AU - Dessein, AF

AU - Fontaine, M

AU - Andresen, Brage Storstein

AU - Gregersen, N

AU - Brivet, M

AU - Rabier, D

AU - Napuri-Gouel , S

AU - Dobbelaere, D

AU - Mention-Mulliez , K

AU - Martin-Ponthieu , A

AU - Briand, G

AU - Millington, DS

AU - Vianey-Saban, C

AU - Wanders, RJA

AU - Vamecq, J

PY - 2010

Y1 - 2010

U2 - 10.1186/1750-1172-5-26

DO - 10.1186/1750-1172-5-26

M3 - Journal article

VL - 5

JO - Orphanet Journal of Rare Diseases

JF - Orphanet Journal of Rare Diseases

SN - 1750-1172

IS - 26

ER -