Infantile systemic hyalinosis associated with a putative splice-site mutation in the ANTXR2 gene

Clinical and Experimental Dermatology

Volumn 37, Issue 6, 2012, Pages 635-638

  Fong, K ^a   Rama Devi, A R ^b   Lai Cheong, J E ^a   Chirla, D ^b   Panda, S K ^b   Liu, L ^c   Tosi, I ^a   McGrath, J A ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b Rainbow Children's Hospital   (India)

^c ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANTHRAX TOXIN RECEPTOR 2 PROTEIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DIARRHEA; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; INFANT; MUSCLE ATONIA; OSTEOARTHRITIS; PRIORITY JOURNAL; RNA SPLICING; SKIN DEFECT; SYSTEMIC HYALINOSIS;

FEMALE; HUMANS; HYALINOSIS, SYSTEMIC; INFANT; MEMBRANE PROTEINS; MUTATION; RNA SPLICE SITES;

EID: 84864152175     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2011.04287.x     Document Type: Article

References (10)

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