Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform

Molecular Vision

Volumn 14, Issue , 2008, Pages 1856-1864

  Sharma, Shiwani ^a   Burdon, Kathryn P ^a   Dave, Alpana ^a   Jamieson, Robyn V ^b,c   Yaron, Yuval ^d   Billson, Frank ^e   Van Maldergem, Lionel ^f   Lorenz, Birgit ^g   Gécz, Jozef ^h,i   Craig, Jamie E ^a  

^a FLINDERS UNIVERSITY   (Australia)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c University of Sydney   (Australia)

^d TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^e UNIVERSITY OF SYDNEY   (Australia)

^f UNIVERSITY OF LIÈGE   (Belgium)

^g UNIVERSITY HOSPITAL GIESSEN   (Germany)

^h WOMEN S AND CHILDREN S HOSPITAL   (Australia)

ⁱ UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME PROTEIN; COMPLEMENTARY DNA; NHS A PROTEIN; UNCLASSIFIED DRUG;

ADULT; ANIMAL CELL; ARTICLE; CATARACTOGENESIS; CELL JUNCTION; CELLULAR DISTRIBUTION; CLINICAL ARTICLE; CONGENITAL CATARACT; CONTROLLED STUDY; CYTOPLASM; EPITHELIUM CELL; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; HUMAN CELL; LENS EPITHELIUM; MALE; MUTATIONAL ANALYSIS; NANCE HORAN SYNDROME; NONHUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; ANIMALS; BASE SEQUENCE; CELL LINE; DNA MUTATIONAL ANALYSIS; DOGS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS; MUTANT PROTEINS; MUTATION; NUCLEAR PROTEINS; PROTEIN ISOFORMS; PROTEIN TRANSPORT; SYNDROME;

EID: 55349130008     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

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