Eight previously unidentified mutations found in the OAI ocular albinism gene

BMC Medical Genetics

Volumn 7, Issue , 2006, Pages

  Mayeur, Hélène ^a   Roche, Olivier ^a,b   Vêtu, Christelle ^a   Jaliffa, Carolina ^a   Marchant, Dominique ^a   Dollfus, Hélène ^c   Bonneau, Dominique ^d   Munier, Francis L ^e   Schorderet, Daniel F ^f   Levin, Alex V ^g   Héon, Elise ^g   Sutherland, Joanne ^g   Lacombe, Didier ^h   Said, Edith ⁱ   Mezer, Eedy ^j   Kaplan, Josseline ^b   Dufier, Jean Louis ^a,b   Marsac, Cécile ^a   Menasche, Maurice ^a   Abitbol, Marc ^a,b  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^d ANGERS UNIVERSITY HOSPITAL   (France)

^e JULES GONIN EYE HOSPITAL   (Switzerland)

^f Institut de Recherche en Ophtalmologie   (Switzerland)

^g HOSPITAL FOR SICK CHILDREN   (Canada)

^h HÔPITAL PELLEGRIN   (France)

ⁱ ST LUKE S HOSPITAL   (Malta)

^j Alberto Moscona Department of Ophthalmology   (Israel)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT; G PROTEIN COUPLED RECEPTOR; LIGAND; TAQ POLYMERASE;

ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ARTICLE; EXON; FAMILY STUDY; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC SCREENING; HUMAN; LIGAND BINDING; MAJOR CLINICAL STUDY; MOLECULAR INTERACTION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OCULAR ALBINISM; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEIN BINDING; PROTEIN FOLDING; RNA SPLICING; STOP CODON;

ALBINISM, OCULAR; AMINO ACID SEQUENCE; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POINT MUTATION; RNA SPLICE SITES; SEQUENCE DELETION;

EID: 33646857893     PISSN: 14712350     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-7-41     Document Type: Article

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