SCOPUS 정보 검색 플랫폼

Volumn 80, Issue 5, 2007, Pages 966-970

Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes

(11) Dagoneau, N a Bellais, S a Blanchet, P c Sarda, P c Al Gazali, L I d Di Rocco, M e Huber, C a Djouadi, F b Le Goff, C a Munnich, A a Cormier Daire, V a

a HÔPITAL NECKER ENFANTS MALADES (France)

b CNRS (France)

c HÔPITAL ARNAUD DE VILLENEUVE (France)

d UNITED ARAB EMIRATES UNIVERSITY (United Arab Emirates)

e G GASLINI INSTITUTE (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CILIARY NEUROTROPHIC FACTOR; CILIARY NEUROTROPHIC FACTOR RECEPTOR; CYTOKINE RECEPTOR; FIBRONECTIN; IMMUNOGLOBULIN; LEUKEMIA INHIBITORY FACTOR; MESSENGER RNA; MUTANT PROTEIN; PROTEIN CRLF1; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; CRISPONI SYNDROME; CRLF1 GENE; DISEASE ASSOCIATION; FEMALE; FIBROBLAST; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; INFANT; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; REAL TIME POLYMERASE CHAIN REACTION; RECEPTOR GENE; SCHWARTZ JAMPEL SYNDROME; TRANSCRIPTOMICS;

EID: 34247573834 PISSN: 00029297 EISSN: None Source Type: Journal
DOI: 10.1086/513608 Document Type: Article

Times cited : (52)

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