High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease

Clinical Genetics

Volumn 83, Issue 1, 2013, Pages 66-72

  Bilir, B ^a   Yapici, Z ^b   Yalcinkaya, C ^c   Baris, I ^a   Carvalho, Cmb ^d   Bartnik, M ^d,e   Ozes, B ^a   Eraksoy, M ^b   Lupski, J ^d   Battaloglu, E ^a  

^a BOGAZICI UNIVERSITY   (Turkey)

^b ISTANBUL UNIVERSITY   (Turkey)

^c ISTANBUL UNIVERSITY   (Turkey)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e INSTITUTE OF MOTHER AND CHILD   (Poland)

Author keywords

GJA12 GJC2; Hypomeylinating leukodystrophies; Merzbacher disease; Pelizaeus; PLP1

Indexed keywords

CONNEXIN 47; PROTEOLIPID PROTEIN; PROTEOLIPID PROTEIN 1; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; MALE; PELIZAEUS MERZBACHER DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; COMPARATIVE GENOMIC HYBRIDIZATION; CONNEXINS; FEMALE; GENE REARRANGEMENT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MUTATION; MYELIN PROTEOLIPID PROTEIN; PEDIGREE; PELIZAEUS-MERZBACHER DISEASE; TURKEY;

EID: 84871223039     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2012.01846.x     Document Type: Article

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