Two novel CTNS mutations in cystinosis patients in Thailand

Gene

Volumn 499, Issue 2, 2012, Pages 323-325

  Yeetong, Patra ^a,b,c   Tongkobpetch, Siraprapa ^a,b   Kingwatanakul, Pornchai ^a   Deekajorndech, Tawatchai ^a   Bernardini, Isa M ^d   Suphapeetiporn, Kanya ^a,b   Gahl, William A ^d   Shotelersuk, Vorasuk ^a,b  

^a CHULALONGKORN UNIVERSITY   (Thailand)

^b KING CHULALONGKORN MEMORIAL HOSPITAL   (Thailand)

^c CHULALONGKORN UNIVERSITY   (Thailand)

^d NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

CTNS; Cystinosis; Novel mutations; Thai

Indexed keywords

CYSTINE; CYSTINOSIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CHILD; CLINICAL ARTICLE; CYSTINOSIS; FAMILY; FAMILY HISTORY; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; LEUKOCYTE; MISSENSE MUTATION; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; THAILAND;

ADOLESCENT; AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; CHILD; CHILD, PRESCHOOL; CYSTINOSIS; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT; MUTATION, MISSENSE; POINT MUTATION; THAILAND;

EID: 84860243983     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.03.047     Document Type: Article

References (9)

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