Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA)

Human Genetics

Volumn 127, Issue 1, 2010, Pages 118-

  Vallespin, Elena ^a   Avila Fernandez, A ^a   Almoguera, B ^a   Cantalapiedra, D ^a   Garcia Hoyos, M ^a   Riveiro Alvarez, R ^a   Aguirre Lamban, J ^a   Bustamante Aragones, A ^a   Trujillo Tiebas, M J ^a   Ayuso, C ^a  

^a Hospital UniversitarioFundación Jiménez Díaz   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

METHYL CPG BINDING PROTEIN 2; EYE PROTEIN; LEBERCILIN PROTEIN, HUMAN; MICROTUBULE ASSOCIATED PROTEIN;

CASE REPORT; DNA DETERMINATION; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; LEBER CONGENITAL AMAUROSIS; NOTE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETT SYNDROME; ARTICLE; CODON; GENE DELETION; GENETICS;

BASE SEQUENCE; CODON; EYE PROTEINS; HUMANS; LEBER CONGENITAL AMAUROSIS; MICROTUBULE-ASSOCIATED PROTEINS; SEQUENCE DELETION;

EID: 77449093160     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: None     Document Type: Note

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