Novel truncating mutations of the CHM gene in Chinese patients with choroideremia

Molecular Vision

Volumn 13, Issue , 2007, Pages 2183-2193

  Yip, Shea Ping ^a,b   Cheung, Tsz Shan ^a   Chu, Man Yu ^a   Cheung, Suk Chun ^a   Leung, Kam Wah ^a,b   Tsang, Kin Ping ^b   Lam, Stephen T S ^b,c   To, Chi Ho ^a,b  

^a HONG KONG POLYTECHNIC UNIVERSITY   (Hong Kong)

^b Scientific and Medical Advisory Committee ^*  (Hong Kong)

^c DEPARTMENT OF HEALTH   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONE; DNA; MESSENGER RNA; RAB ESCORT PROTEIN 1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHINESE; CHOROIDEREMIA; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA FLANKING REGION; DNA SEQUENCE; EXON; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DUPLICATION; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; IMMUNOBLOTTING; INTRON; LEUKOCYTE; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; CHINA; CHOROIDEREMIA; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC SCREENING; HUMANS; IMMUNOBLOTTING; LEUKOCYTES; MALE; MIDDLE AGED; MUTATION; NUCLEIC ACID DENATURATION; PEDIGREE;

EID: 36749054008     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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