Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

Journal of medical genetics

Volumn 43, Issue 11, 2006, Pages

  Aller, E ^a   Jaijo, T ^a   Beneyto, M ^a   Najera C ^a   Oltra, S ^a   Ayuso, C ^a   Baiget, M ^a   Carballo, M ^a   Antinolo G ^a   Valverde, D ^a   Moreno, F ^a   Vilela, C ^a   Collado, D ^a   Perez Garrigues H ^a   Navea, A ^a   Millan J M ^a  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ISOPROTEIN; SCLEROPROTEIN; USH2A PROTEIN, HUMAN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; EXON; GENETIC SCREENING; GENETICS; HUMAN; MUTATION; SPAIN; USHER SYNDROME;

ADOLESCENT; ADULT; ALLELES; EXONS; EXTRACELLULAR MATRIX PROTEINS; GENETIC SCREENING; HUMANS; MUTATION; PROTEIN ISOFORMS; SPAIN; USHER SYNDROMES;

EID: 34548025292     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2006.041764     Document Type: Article

References (0)