A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family

Human Genetics

Volumn 112, Issue 3, 2003, Pages 319-320

  D'Adamo, Pio ^a   Pinna, Maura ^b   Capobianco, Saverio ^b   Cesarani, Antonio ^b   D'Eustacchio, Angela ^b   Fogu, Pina ^b   Carella, Massimo ^a   Seri, Marco ^c   Gasparini, Paolo ^a,d  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b UNIVERSITY OF SASSARI   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

INTEGRIN; MYOSIN LIGHT CHAIN; PREFOLDIN 5; PROTEIN; RETINOIC ACID RECEPTOR GAMMA; UNCLASSIFIED DRUG; CARRIER PROTEIN; MYH14 PROTEIN, HUMAN; MYOSIN HEAVY CHAIN; MYOSIN II;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 12Q; CHROMOSOME 12Q13-Q14; DFNA48 GENE; FAMILY; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC SCREENING; GENETIC TRAIT; HEARING IMPAIRMENT; HEARING LOSS; HUMAN; ITALY; MARKER GENE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SENSORY DYSFUNCTION; CHROMOSOME 12; DOMINANT GENE; GENETICS; PEDIGREE;

CARRIER PROTEINS; CHROMOSOMES, HUMAN, PAIR 12; DEAFNESS; GENES, DOMINANT; HUMANS; ITALY; LOD SCORE; MYOSIN HEAVY CHAINS; MYOSIN TYPE II; PEDIGREE;

EID: 0037358746     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0880-6     Document Type: Article

References (5)

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