Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene

Clinical and Experimental Dermatology

Volumn 29, Issue 1, 2004, Pages 77-80

  Chan, I ^a,b   Hamada, T ^b,c   Hardman, C ^a   McGrath, J A ^b   Child, F J ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN GNAS1; UNCLASSIFIED DRUG;

ALBRIGHT SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD DEVELOPMENT; CHINESE; CLINICAL EXAMINATION; CLINICAL FEATURE; DISEASE COURSE; DNA SEQUENCE; FEMALE; GENE MUTATION; GENOME IMPRINTING; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LABORATORY TEST; MISSENSE MUTATION; PRIORITY JOURNAL; PROGRESSIVE OSSEOUS HETEROPLASIA; PSEUDOHYPOPARATHYROIDISM; SCHOOL CHILD; SKIN BIOPSY; SKIN DEFECT; SKIN DISEASE;

CHILD; CHROMOSOMES, HUMAN, PAIR 20; FEMALE; FRAMESHIFT MUTATION; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; MUTATION, MISSENSE; OSSIFICATION, HETEROTOPIC; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 0842287385     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2004.01439.x     Document Type: Article

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