SCOPUS 정보 검색 플랫폼

Volumn 28, Issue 4, 2011, Pages 447-450

Buschke-ollendorff syndrome with striking phenotypic variation resulting from a novel c.2203C>T nonsense mutation in LEMD3

(6) Yuste Chaves, Manuela a Cañueto, Javier a Santos Briz, Ángel a Ciria, Sara b González Sarmiento, Rogelio b Unamuno, Pablo a

a HOSPITAL UNIVERSITARIO DE SALAMANCA (Spain)

b UNIVERSITY OF SALAMANCA (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; LEM DOMAIN CONTAINING PROTEIN 3; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BUSCHKE OLLENDORFF SYNDROME; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; COLLAGEN DISEASE; FEMALE; GENE LOCUS; GENETIC ANALYSIS; HUMAN; MALE; NONSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; X RAY;

ADULT; AGED; BASE SEQUENCE; CHILD; CODON, NONSENSE; FEMALE; HETEROZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; NUCLEAR PROTEINS; OSTEOPOIKILOSIS; SKIN; SKIN DISEASES, GENETIC;

EID: 79960756795 PISSN: 07368046 EISSN: 15251470 Source Type: Journal
DOI: 10.1111/j.1525-1470.2010.01206.x Document Type: Article

Times cited : (11)

References (9)

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