Mutations in GJB6 cause hidrotic ectodermal dysplasia

Nature Genetics

Volumn 26, Issue 2, 2000, Pages 142-144

  Lamartine, Jérôme ^a   Essenfelder, Guilherme Munhoz ^a   Kibar, Zoha ^b   Lanneluc, Isabelle ^a   Callouet, Edwige ^c   Laoudj, Dalila ^a   Lemaître, Gilles ^a   Hand, Colette ^b   Hayflick, Susan J ^d   Zonana, Jonathan ^d   Antonarakis, Stylianos ^e   Radhakrishna, Uppala ^e   Kelsell, David P ^f   Christianson, Arnold L ^g   Pitaval, Amandine ^a   Der Kaloustian, Vazken ^h   Fraser, Clarke ^h   Blanchet Bardon, Claudine ⁱ   Rouleau, Guy A ^b   Waksman, Gilles ^a  

^a UNIVERSITÉ D EVRY VAL D ESSONNE   (France)

^b MONTREAL GENERAL HOSPITAL   (Canada)

^c GÉNÉTHON   (France)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^f ROYAL LONDON HOSPITAL   (United Kingdom)

^g UNIVERSITY OF PRETORIA   (South Africa)

^h MONTREAL CHILDREN S HOSPITAL   (Canada)

ⁱ SAINT LOUIS HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; CONNEXIN 30; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG;

ALOPECIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 13Q; CLINICAL FEATURE; CLOUSTON SYNDROME; ECTODERMAL DYSPLASIA; EPIDERMIS CELL; EXPRESSED SEQUENCE TAG; FOUNDER EFFECT; GENE MUTATION; GENETIC LINKAGE; HEARING IMPAIRMENT; HUMAN; KERATOSIS PALMOPLANTARIS; MISSENSE MUTATION; NAIL HYPOPLASIA; PEDIGREE; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0342572603     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/79851     Document Type: Article

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