Novel intragenic FRMD7 deletion in a pedigree with congenital X-Linked nystagmus

Ophthalmic Genetics

Volumn 31, Issue 2, 2010, Pages 77-80

  Fingert, John H ^a   Roos, Ben ^a   Eyestone, Mari E ^a   Pham, Joshua D ^a   Mellot, Mei L ^b   Stone, Edwin ^a  

^a UNIVERSITY OF IOWA   (United States)

^b MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

Author keywords

Genetics; Mutation; Nystagmus

Indexed keywords

FERM DOMAIN CONTAINING PROTEIN 7; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME 5; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; HEMIZYGOSITY; HUMAN; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; MOUSE; MULTIPLEX POLYMERASE CHAIN REACTION; NONHUMAN; NONSENSE MUTATION; NYSTAGMUS; PEDIGREE ANALYSIS; PENETRANCE; PRIORITY JOURNAL; SPLICING DEFECT; X LINKED CONGENITAL NYSTAGMUS;

AMINO ACID SUBSTITUTION; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE DELETION; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; NYSTAGMUS, CONGENITAL; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 77952113623     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810903584989     Document Type: Article

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