A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome

British Journal of Dermatology

Volumn 169, Issue 6, 2013, Pages 1353-1356

  Barzegar, M ^a   Mozafari, N ^a   Kariminejad, A ^b   Asadikani, Z ^a   Ozoemena, L ^c   McGrath, J A ^d  

^a Shahid Beheshti University of Medical Sciences   (Iran)

^b Kariminejad Najmabadi Pathology and Genetics Center   (Iran)

^c ST THOMAS HOSPITAL   (United Kingdom)

^d KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

KALININ; LAMININ; LAMININ ALPHA3A; UNCLASSIFIED DRUG; LAMININ ALPHA 3; STOP CODON;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLINDNESS; CASE REPORT; CHILD; CONSANGUINITY; DERMOEPIDERMAL JUNCTION; EMBRYO; EPIDERMOLYSIS BULLOSA; EXON; GENE; GENE MUTATION; GRANULATION TISSUE; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; IRAN; LAMA3 GENE; LARYNGOONYCHOCUTANEOUS SYNDROME; LARYNX STENOSIS; MALE; MOLECULAR PATHOLOGY; MUTATION; NONSENSE MUTATION; PEDIGREE; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; WOUND HEALING IMPAIRMENT; CONJUNCTIVA DISEASE; FEMALE; GENETICS; HOMOZYGOTE; LARYNX DISORDER; STOP CODON;

ADULT; CHILD; CODON, NONSENSE; CONJUNCTIVAL DISEASES; FEMALE; HOMOZYGOTE; HUMANS; LAMININ; LARYNGEAL DISEASES; MALE; PEDIGREE;

EID: 84889061009     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/bjd.12522     Document Type: Article

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