Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations

European Journal of Human Genetics

Volumn 17, Issue 9, 2009, Pages 1154-1159

  Miltenberger Miltenyi, Gabriel ^a   Schwarzbraun, Thomas ^b   Löscher, Wolfgang N ^a   Wanschitz, Julia ^a   Windpassinger, Christian ^b   Duba, Hans Christoph ^c   Seidl, Rainer ^d   Albrecht, Gerhard ^e   Weirich Schwaiger, Helga ^a   Zoller, Heinz ^a   Utermann, Gerd ^a   Auer Grumbach, Michaela ^b   Janecke, Andreas R ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b MEDICAL UNIVERSITY OF GRAZ   (Austria)

^c Department of Human Genetics   (Austria)

^d MEDICAL UNIVERSITY OF VIENNA   (Austria)

^e Kaiser Franz Josef Spital ^*  (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

GAP JUNCTION BETA 1 PROTEIN; MEMBRANE PROTEIN; MYELIN PROTEIN ZERO; PERIPHERAL MYELIN PROTEIN 22; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHILD; CODON; CONTROLLED STUDY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AUSTRIA; CHARCOT-MARIE-TOOTH DISEASE; COMPUTATIONAL BIOLOGY; CONNEXINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; MYELIN P0 PROTEIN; MYELIN PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 69249218015     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.29     Document Type: Article

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