Norrie-Warburg syndrome: Two novel mutations in patients with classical clinical phenotype

Acta Ophthalmologica Scandinavica, Supplement

Volumn 74, Issue 219, 1996, Pages 13-16

  Gal, A ^a   Veske, A ^a   Jojart, G ^a   Grammatico, B ^a   Huber, B ^a   Gu, S ^a   Del Porto, G ^a   Senyi, K ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Blindness; Gene mutations; Initiation codon; Norrie syndrome; X chromosome

Indexed keywords

ARTICLE; BLINDNESS; CLINICAL ARTICLE; FAMILY STUDY; GENE INSERTION; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; MALE; MENTAL DEFICIENCY; NORRIE DISEASE; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME LINKAGE; GENETIC LINKAGE; GENETICS; MENTAL DISEASE; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SYNDROME; X CHROMOSOME;

DNA;

BLINDNESS; CHILD, PRESCHOOL; DEAFNESS; DNA; DNA MUTATIONAL ANALYSIS; HUMANS; LINKAGE (GENETICS); MALE; MENTAL DISORDERS; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; SYNDROME; X CHROMOSOME;

EID: 0029665987     PISSN: 13953931     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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