The controversial p.Arg127His mutation in GJB2: Report on three portuguese hearing loss family cases

Genetic Testing and Molecular Biomarkers

Volumn 14, Issue 1, 2010, Pages 141-144

  Matos, Tiago D ^a   Simões Teixeira, Helena ^a   Caria, Helena ^a,b   Rosa, Helena ^c   O'Neill, Assunção ^d   Fialho, Graça ^a  

^a UNIVERSITY OF LISBON   (Portugal)

^b INSTITUTO POLITÉCNICO DE SETÚBAL   (Portugal)

^c HOSPITAL GARCIA DE ORTA   (Portugal)

^d Pulido Valente Hospital Lisbon North Hospital Centre   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; HISTIDINE;

ALLELE; ARTICLE; ENVIRONMENTAL FACTOR; GENE MUTATION; GENETIC ANALYSIS; HEARING LOSS; HEREDITY; HUMAN; INFORMATION RETRIEVAL; PATHOGENICITY;

ALLELES; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CONNEXINS; CONSANGUINITY; DNA PRIMERS; FEMALE; HEARING LOSS; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; PORTUGAL;

EID: 76949095897     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2009.0103     Document Type: Article

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