Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients

British Journal of Dermatology

Volumn 163, Issue 2, 2010, Pages 416-419

  Chen, L H ^a   Ning, C C ^b   Chao, S C ^a  

^a NATIONAL CHENG KUNG UNIVERSITY HOSPITAL   (Taiwan)

^b TUNGS' TAICHUNG METROHARBOR HOSPITAL   (Taiwan)

Author keywords

autosomal dominant disorder; trichorhinophalangeal syndrome; TRPS1 gene

Indexed keywords

GENE PRODUCT; PROTEIN TRPS1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; ASIAN; CHILD; CLINICAL ARTICLE; FEMALE; HUMAN; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SKIN DISEASE; TRICHORHINOPHALANGEAL SYNDROME TYPE 1;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; FEMALE; FRAMESHIFT MUTATION; HUMANS; LANGER-GIEDION SYNDROME; MALE; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 77954886356     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2010.09802.x     Document Type: Article

References (8)

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