Publications:

Gap junctions in inherited human disorders of the central nervous system.

Biochimica Et Biophysica Acta

Abrams, Charles K CK; Scherer, Steven S SS

Publication Date: 2012-08

Variant appearance in text: GJB1: I33M

PubMed Link: 21871435

Variant Present in the following documents:

• Main text

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Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans.

Plos Genetics

Tress, Oliver O; Maglione, Marta M; Zlomuzica, Armin A; May, Dennis D; Dicke, Nikolai N; Degen, Joachim J; Dere, Ekrem E; Kettenmann, Helmut H; Hartmann, Dieter D; Willecke, Klaus K

Publication Date: 2011-07

Variant appearance in text: GJB1: I33M

PubMed Link: 21750683

Variant Present in the following documents:

• Main text

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