Mutations in the gene encoding gap junction protein α12 (Connexin 46.6) cause Pelizaeus-Merbacher-like disease

American Journal of Human Genetics

Volumn 75, Issue 2, 2004, Pages 251-260

  Uhlenberg, Birgit ^a,b   Schuelke, Markus ^a   Rüschendorf, Franz ^b   Ruf, Nico ^b   Kaindl, Angela M ^a   Henneke, Marco ^c   Thiele, Holger ^b   Stoltenburg Didinger, Gisela ^a   Aksu, Fuat ^d   Topaloǧlu, Haluk ^e   Nürnberg, Peter ^b   Hübner, Christoph ^a   Weschke, Bernhard ^a   Gärtner, Jutta ^c  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^c UNIVERSITY OF GÖTTINGEN   (Germany)

^d UNIVERSITY OF WITTEN HERDECKE   (Germany)

^e HACETTEPE UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 47; DNA; GAP JUNCTION PROTEIN; RNA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHROMOSOME 1Q; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; DNA MICROARRAY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GJA12 GENE; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MISSENSE MUTATION; MOTOR NERVE CONDUCTION; MYELINATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; NYSTAGMUS; OLIGODENDROGLIA; PELIZAEUS MERZBACHER DISEASE; PERIPHERAL LYMPHOCYTE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCIATIC NERVE; SENSORY NERVE CONDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTICITY; SURAL NERVE;

MURINAE;

EID: 3242693178     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/422763     Document Type: Article

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