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Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

par Coppieters, Frauke;Depasse, Fanny ;Casteels, Ingele;de Ravel, Thomy;Meire, Françoise ;Leroy, Bart B.P.;De Baere, Elfride;Van Schil, Kristof;Bauwens, Miriam;Verdin, Hannah;De Jaegher, Annelies;Syx, Delfien;Sante, Tom;Lefever, Steve;Abdelmoula, Nouha Bouayed
Référence Genetics in medicine, 16, 9, page (671-680)
Publication Publié, 2014-09

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Titre:	Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy
Auteur:	Coppieters, Frauke; Depasse, Fanny; Casteels, Ingele; de Ravel, Thomy; Meire, Françoise; Leroy, Bart B.P.; De Baere, Elfride; Van Schil, Kristof; Bauwens, Miriam; Verdin, Hannah; De Jaegher, Annelies; Syx, Delfien; Sante, Tom; Lefever, Steve; Abdelmoula, Nouha Bouayed
Informations sur la publication:	Genetics in medicine, 16, 9, page (671-680)
Statut de publication:	Publié, 2014-09
Sujet CREF:	Génétique clinique
Mots-clés:	copy-number variation analysis
	identity-by-descent mapping
	retinal dystrophy
	variant filtering
	whole-exome sequencing
Note générale:	SCOPUS: ar.j
Langue:	Anglais
Identificateurs:	urn:issn:1098-3600
	info:doi/10.1038/gim.2014.24
	info:pii/gim201424
	info:scp/84905962072
	info:pmid/24625443