Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNASer(UCN) in sensorineural hearing loss

Clinical Genetics

Volumn 73, Issue 1, 2008, Pages 50-54

  Labay, V ^a   Garrido, G ^b,c   Madeo, A C ^a   Nance, W E ^d   Friedman, T B ^a   Friedman, P L ^e   del Castillo, B C ^b,c   Griffith, Andrew J ^a  

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^b HOSPITAL RAMÓN Y CAJAL   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^d VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^e NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Deafness; Genetic; Haplogroup; Hearing; Matrilineal; Mitochondrial

Indexed keywords

MITOCHONDRIAL RNA; TRANSFER RNA;

ADULT; ARTICLE; CAUCASIAN; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY ASSESSMENT; GENE MUTATION; GENE SEQUENCE; GENETIC PREDISPOSITION; HAPLOTYPE; HETEROZYGOTE; HUMAN; NORTH AMERICA; NUCLEIC ACID BASE SUBSTITUTION; ONSET AGE; PEDIGREE ANALYSIS; PENETRANCE; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

DNA, MITOCHONDRIAL; FAMILY HEALTH; GENOME, MITOCHONDRIAL; HAPLOTYPES; HEARING LOSS, SENSORINEURAL; NORTH AMERICA; PEDIGREE; POINT MUTATION; RNA, TRANSFER, SER;

EID: 37249076890     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00925.x     Document Type: Article

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