Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis

Human Genetics

Volumn 127, Issue 1, 2010, Pages 119-

  Vallespin, Elena ^a   Avila Fernandez, A ^a   Velez Monsalve, C ^a   Almoguera, B ^a   Martinez Garcia, M ^a   Gomez Dominguez, B ^a   Gonzalez Roubaud, C ^a   Cantalapiedra, D ^a   Trujillo Tiebas, M J ^a   Ayuso, C ^a  

^a Hospital UniversitarioFundación Jiménez Díaz   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

LEBER CONGENITAL AMAUROSIS; MISSENSE MUTATION; NONSENSE MUTATION; NOTE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; ARTICLE; CODON; GENETICS; HUMAN;

CRB1 PROTEIN, HUMAN; EYE PROTEIN; MEMBRANE PROTEIN; NERVE PROTEIN;

CODON; EYE PROTEINS; HUMANS; LEBER CONGENITAL AMAUROSIS; MEMBRANE PROTEINS; MUTATION, MISSENSE; NERVE TISSUE PROTEINS;

EID: 77449149799     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: None     Document Type: Note

References (0)