EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)

European Journal of Human Genetics

Volumn 24, Issue 4, 2016, Pages 479-495

  Porto, Graa ^a,b   Brissot, Pierre ^c   Swinkels, Dorine W ^d   Zoller, Heinz ^e   Kamarainen, Outi ^f   Patton, Simon ^f   Alonso, Isabel ^a   Morris, Michael ^f,g   Keeney, Steve ^f,h  

^a UNIVERSITY OF PORTO   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

^c PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^f European Molecular Genetics Network (EMQN)   (United Kingdom)

^g SYNLAB ACADEMY   (Germany)

^h MANCHESTER ROYAL INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; FERROPORTIN; HEMOJUVELIN; HEPCIDIN; HUMAN HEMOCHROMATOSIS PROTEIN; IRON; MESSENGER RNA; NATURAL RESISTANCE ASSOCIATED MACROPHAGE PROTEIN 2; PROTEIN; SLC11A2 PROTEIN; TRANSFERRIN RECEPTOR 2; UNCLASSIFIED DRUG; HEMOCHROMATOSIS PROTEIN; HFE PROTEIN, HUMAN;

ACERULOPLASMINEMIA; ADULT ONSET HEMOCHROMATOSIS; ALLELE; CLINICAL EFFECTIVENESS; CLINICAL FEATURE; CLINICAL PRACTICE; CONGENITAL DYSERYTHROPOIETIC ANEMIA; CONSENSUS; CONSULTATION; DIAGNOSTIC VALUE; DISEASE CLASSIFICATION; DNA SEQUENCE; EXPECTATION; FERRITIN BLOOD LEVEL; FIRST DEGREE RELATIVE; FOLLOW UP; GAIN OF FUNCTION MUTATION; GENE DELETION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC DISORDER; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HEALTH CARE SURVEY; HEMOGLOBINOPATHY; HEREDITARY HEMOCHROMATOSIS; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; HYPERFERRITINEMIA; HYPOTRANSFERRINEMIA; IRON METABOLISM; IRON OVERLOAD; JUVENILE HEMOCHROMATOSIS; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; MORBIDITY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEXT GENERATION SEQUENCING; NOMENCLATURE; PATHOPHYSIOLOGY; PATIENT CARE; PATIENT REFERRAL; PHYSICIAN; PRACTICE GUIDELINE; PRIORITY JOURNAL; PROTEIN EXPRESSION; QUALITY CONTROL; RARE DISEASE; RECEPTOR DOWN REGULATION; REVIEW; RISK ASSESSMENT; SELF REPORT; SIDEROBLASTIC ANEMIA; SINGLE STRAND CONFORMATION POLYMORPHISM; SPOUSE; THALASSEMIA; GENETICS; HEMOCHROMATOSIS; MISSENSE MUTATION; PROCEDURES; STANDARDS;

GENETIC TESTING; HEMOCHROMATOSIS; HEMOCHROMATOSIS PROTEIN; HETEROZYGOTE; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION, MISSENSE;

EID: 84960397668     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.128     Document Type: Review

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