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Orphanet journal of rare diseases, ISSN 1750-1172, 2010, Volume 5, Issue 1, pp. 26 - 26
Journal Article
ANNALS OF HUMAN GENETICS, ISSN 0003-4800, 07/2013, Volume 77, pp. 299 - 307
Wilson disease (WD) is an autosomal recessive disorder resulting from mutations in the ATP7B gene, with over 600 mutations described. Identification of... 
phenotype | DIAGNOSIS | Wilson disease | PERSPECTIVE | ATPASE | H1069Q MUTATION | GAS for WD | genotype | India | ATP7B | FAMILIES | GENETICS & HEREDITY | MOLECULAR PATHOGENESIS | SPECTRUM | PREVALENT MUTATIONS | ATP7B GENE | GERMAN PATIENTS
Journal Article
Journal Article
Journal Article
by Kim, SW and Lee, JI and Kim, JW and Ki, CS and Oh, YL and Choi, YL and Shin, JH and Kim, HK and Jang, HW and Chung, JH
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, ISSN 0021-972X, 08/2010, Volume 95, Issue 8, pp. 3693 - 3700
Background: The BRAF(V600E) mutation is highly specific to papillary thyroid carcinoma. A test for this mutation may increase the diagnostic accuracy of... 
V600E | PREVALENT AREA | BRAF MUTATION | DIAGNOSTIC-TOOL | ENDOCRINOLOGY & METABOLISM | CLINICAL-IMPLICATIONS | RISK | BIOPSY SPECIMENS | CANCER | CARCINOMA | PCR
Journal Article
Lancet Respiratory Medicine, The, ISSN 2213-2600, 2016, Volume 4, Issue 2, pp. 129 - 137
Journal Article
by Koh, J and Choi, JR and Han, KH and Kim, EK and Yoon, JH and Moon, HJ and Kwak, JY
PLOS ONE, ISSN 1932-6203, 05/2013, Volume 8, Issue 5, p. e64505
Journal Article
Journal Article