Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - Updated European recommendations

European Journal of Human Genetics

Volumn 17, Issue 1, 2009, Pages 51-65

  Dequeker, Els ^a   Stuhrmann, Manfred ^b   Morris, Michael A ^c   Casals, Teresa ^d   Castellani, Carlo ^e   Claustres, Mireille ^f   Cuppens, Harry ^a   des Georges, Marie ^f   Ferec, Claude ^g   Macek, Milan ^h   Pignatti, Pier Franco ⁱ   Scheffer, Hans ^j   Schwartz, Marianne ^k   Witt, Michal ^l   Schwarz, Martin ^m   Girodon, Emmanuelle ⁿ  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b HANNOVER MEDICAL SCHOOL   (Germany)

^c UNIVERSITY HOSPITAL   (Switzerland)

^d BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^e UNIVERSITY HOSPITAL OF VERONA   (Italy)

^f MONTPELLIER UNIVERSITY HOSPITAL   (France)

^g Laboratoire de Genetique Moleculaire   (France)

^h CHARLES UNIVERSITY   (Czech Republic)

ⁱ UNIVERSITY OF VERONA   (Italy)

^j RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^k Molekylærgenetisk laboratorium   (Denmark)

^l INSTITUTE OF HUMAN GENETICS   (Poland)

^m ST MARY S HOSPITAL   (United Kingdom)

ⁿ HENRI MONDOR HOSPITAL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CYSTIC FIBROSIS; DIAGNOSTIC PROCEDURE; ETHNICITY; EUROPE; FAMILY HISTORY; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC SCREENING; GEOGRAPHIC DISTRIBUTION; HUMAN; INTESTINE MALFORMATION; LABORATORY DIAGNOSIS; MALE INFERTILITY; MICROSATELLITE MARKER; MOLECULAR GENETICS; PATHOGENICITY; PRACTICE GUIDELINE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RISK ASSESSMENT;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; ETHNIC GROUPS; FEMALE; GENETIC COUNSELING; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMANS; INFERTILITY, MALE; INTESTINAL DISEASES; LABORATORIES; MALE; MICROSATELLITE REPEATS; MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; RISK ASSESSMENT;

EID: 57649232744     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.136     Document Type: Article

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