Two novel CHN1 mutations in 2 families with Duane retraction syndrome

Archives of Ophthalmology

Volumn 129, Issue 5, 2011, Pages 649-652

  Chan, Wai Man ^a,b   Miyake, Noriko ^a,e   Zhu Tam, Lily ^c   Andrews, Caroline ^a,b   Engle, Elizabeth C ^a,b,d  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c STATE UNIVERSITY OF NEW YORK   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CHIMERIN; CHIMERIN ALPHA2; CYTOSINE; LEUCINE; PROLINE; THIOURACIL; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CHN1 GENE; CLINICAL ARTICLE; DUANE RETRACTION SYNDROME; FEMALE; GENE LOCUS; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; HUMAN GENOME; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PREDICTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHIMERIN 1; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; DUANE RETRACTION SYNDROME; FEMALE; GENETIC LINKAGE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 79955747980     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2011.84     Document Type: Article

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