Deficient membrane integration of the novel p.N14D-GJB2 mutant associated with non-syndromic hearing impairment.

Human mutation

Volumn 27, Issue 11, 2006, Pages 1158-1159

  Haack, B ^a   Schmalisch, K ^a   Palmada, M ^a   Bohmer C ^a   Kohlschmidt, N ^a   Keilmann, A ^a   Zechner, U ^a   Limberger, A ^a   Beckert, S ^a   Zenner, H P ^a   Lang, F ^a   Kupka, S ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN; MEMBRANE ANTIGEN;

ANIMAL; ARTICLE; CASE REPORT; CELL JUNCTION; CELL MEMBRANE; CHILD; GENE EXPRESSION; GENETICS; HEARING LOSS; HUMAN; IN VITRO STUDY; MALE; METABOLISM; MOLECULAR CLONING; MUTATION; NUCLEOTIDE SEQUENCE; OOCYTE; PEDIGREE; PHYSIOLOGY; PRESCHOOL CHILD; PROTEIN TRANSPORT; XENOPUS LAEVIS;

ANIMALS; ANTIGENS, SURFACE; CELL MEMBRANE; CHILD; CHILD, PRESCHOOL; CLONING, MOLECULAR; CONNEXINS; DNA MUTATIONAL ANALYSIS; GAP JUNCTIONS; GENE EXPRESSION; HEARING LOSS; HUMANS; MALE; MUTATION; OOCYTES; PEDIGREE; PROTEIN TRANSPORT; XENOPUS LAEVIS;

EID: 35248883792     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9464     Document Type: Article

References (0)