Diversified clinical presentations associated with a novel Sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome

Molecular Vision

Volumn 19, Issue , 2013, Pages 986-994

  Yang, Ming Ming ^a   Ho, Mary ^b   Lau, Henry H W ^b   Tam, Pancy O S ^a   Young, Alvin L ^a,b   Pang, Chi Pui ^a,b   Yip, Wilson W K ^b   Chen, Li Jia ^a,b  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; BIOINFORMATICS; CASE REPORT; CHILD; CHINESE; CONTROLLED STUDY; DUANE RETRACTION SYNDROME; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMAN; INFANT; MALE; MUTATIONAL ANALYSIS; NONSENSE MEDIATED MRNA DECAY; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SAL LIKE 4 GENE; STOP CODON;

ADULT; AGED; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD, PRESCHOOL; CHINA; DNA MUTATIONAL ANALYSIS; DUANE RETRACTION SYNDROME; FEMALE; FIXATION, OCULAR; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; TRANSCRIPTION FACTORS;

EID: 84877705517     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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