Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease

American Journal of Human Genetics

Volumn 92, Issue 3, 2013, Pages 422-430

  Soong, Bing Wen ^a,b   Huang, Yen Hua ^b   Tsai, Pei Chien ^b   Huang, Chien Chang ^b   Pan, Hung Chuan ^b,c   Lu, Yi Chun ^a   Chien, Hsin Ju ^a   Liu, Tze Tze ^b   Chang, Ming Hong ^b,c   Lin, Kon Ping ^a,b   Tu, Pang Hsien ^d   Kao, Lung Sen ^b   Lee, Yi Chung ^a,b  

^a TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

^c TAICHUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^d INSTITUTE OF BIOMEDICAL SCIENCES   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; G PROTEIN COUPLED RECEPTOR; GLUTAMINE; GLYCINE; GUANINE NUCLEOTIDE BINDING PROTEIN BETA 4; GUANINE NUCLEOTIDE BINDING PROTEIN BETA SUBUNIT; LYSINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 3Q; CLINICAL ARTICLE; EXOME; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENOME ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IN VIVO STUDY; MALE; MUTATIONAL ANALYSIS; NERVE FIBER; NUCLEOTIDE SEQUENCE; PERIPHERAL NERVE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SCHOOL CHILD; SCHWANN CELL; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; SURAL NERVE;

ADOLESCENT; ADULT; AXONS; BRADYKININ; CHARCOT-MARIE-TOOTH DISEASE; CHILD; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GTP-BINDING PROTEIN BETA SUBUNITS; HUMANS; MALE; MIDDLE AGED; MUTATION; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; RECEPTORS, G-PROTEIN-COUPLED; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84876410917     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.01.014     Document Type: Article

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