Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease

Gene

Volumn 513, Issue 2, 2013, Pages 233-238

  Kammoun Jellouli, Nadege ^a   Hadj Salem, Ikhlass ^a   Ellouz, Emna ^b,c   Louhichi, Nacim ^a   tlili, Abdelaziz ^a   Kammoun, Fatma ^b   Triki, Chanez ^b   Fakhfakh, Faiza ^a,c   Dridi, Marie Françoise Ben ^c   Tebib, Néji ^c   Khelifa, Hend Ben ^c   Chehida, Amel Ben ^c   Chaabouni, Habiba Bouhamed ^c   M'rad, Ridha ^c   Chaabouni, Myriam ^c   Jemaa, Lamia Ben ^c   Maaloul, Faouzi ^c   Kaabachi, Naziha ^c   Sanhaji, Haifa ^c   Nasrallah, Fahmi ^c   Elghezal, Ali Saad Hatem ^c   Gribaa, Moez ^c   Mougou, Soumaya ^c   Abdallah, Ines Ben ^c   Zemni, Ramzi ^c   Salama, Foued Haj ^c   Chabchoub, Elyes ^c   Achour, Amani ^c   Essoussi, Ahmed Sahloul ^c   Boughamoura, Lamia ^c   Souayah, Najla ^c   Bouguila, Jihene ^c   Miled, Abdelhedi ^c   Ferchichi, Salima ^c   Chahed, Henda ^c   Triki, Chahnez Charfi ^c   Othman, Houda Ben ^c   Kamoun, Fatma ^c   Kamoun, Hassen ^c   Belghuith, Neila ^c   Fendri, Nourhene ^c   Kamoun, Nadege ^c   Ayedi, Fatma Makni ^c   Jamoussi, Kamel ^c   Turki, Mouna ^c   Messeddi, Meriam ^c   more..

^a UNIVERSITY OF SFAX   (Tunisia)

^b HEDI CHAKER HOSPITAL   (Tunisia)

^c Laboratoire de Recherche LR12SP15 Recherche Cardiopulmonaire en Medecine Intensive et Toxicologie Ministère de l'Enseignement Supérieur et de la Recherche Scientifique   (Tunisia)

Author keywords

C. 167A>G mutation; Connexin 47; Founder effect; Hypomyelination; Pelizaeus Merzbacher like disease

Indexed keywords

GAP JUNCTION PROTEIN; GAP JUNCTION PROTEIN GAMMA 2; UNCLASSIFIED DRUG;

CLINICAL ARTICLE; DNA SEQUENCE; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MICROSATELLITE MARKER; PELIZAEUS MERZBACHER DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; REVIEW;

CONNEXINS; FEMALE; FOUNDER EFFECT; HAPLOTYPES; HUMANS; MALE; MICROSATELLITE REPEATS; MUTATION; PELIZAEUS-MERZBACHER DISEASE; PHORBOLS; PROMOTER REGIONS, GENETIC; TUNISIA;

EID: 84870737290     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.10.070     Document Type: Review

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