Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis.

Human genetics

Volumn 125, Issue 3, 2009, Pages 349-

  Auz Alexandre, Carmen Laura ^a   Vallespin, E ^a   Aguirre Lamban, J ^a   Cantalapiedra, D ^a   Avila Fernandez, A ^a   Villaverde Montero, C ^a   Ainse, E ^a   Trujillo Tiebas, M J ^a   Ayuso, C ^a  

^a Hospital UniversitarioFundación Jiménez Díaz   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CELL SURFACE RECEPTOR; GUANYLATE CYCLASE; GUANYLATE CYCLASE 1;

AMINO ACID SUBSTITUTION; ARTICLE; BLINDNESS; CODON; GENETICS; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MISSENSE MUTATION; MOLECULAR GENETICS;

AMINO ACID SUBSTITUTION; BLINDNESS; CODON; GUANYLATE CYCLASE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OPTIC ATROPHY, HEREDITARY, LEBER; RECEPTORS, CELL SURFACE;

EID: 64249128195     PISSN: None     EISSN: 14321203     Source Type: Journal    
DOI: None     Document Type: Article

References (0)