Two missense mutations in SLC26A4 gene: A molecular and functional study

Clinical Genetics

Volumn 78, Issue 1, 2010, Pages 74-80

  Ben Rebeh, I ^a   Yoshimi, N ^b   Hadj Kacem, H ^a   Yanohco, S ^b   Hammami, B ^c   Mnif, M ^d   Araki, M ^b   Ghorbel, A ^c   Ayadi, H ^a   Masmoudi, S ^a   Miyazaki, H ^b  

^a CENTRE DE BIOTECHNOLOGIE DE SFAX   (Tunisia)

^b UNIVERSITY OF TSUKUBA   (Japan)

^c HABIB BOURGUIBA HOSPITAL   (Tunisia)

^d Laboratoire International Associé Gènes et Protéines dans les maladies multigéniques   (United States)

Author keywords

Founder effect; Glycosylation; Goiter; Missense mutation; Pendred syndrome; Pendrin; SLC26A4

Indexed keywords

ANION TRANSPORT PROTEIN; PENDRIN; CARRIER PROTEIN; COMPLEMENTARY DNA; MEMBRANE PROTEIN; SLC26A4 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENETIC LINKAGE; GLYCOSYLATION; GOITER; HEARING LOSS; HUMAN; HUMAN CELL; INFANT; MALE; MISSENSE MUTATION; MOLECULAR DYNAMICS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; ANIMAL; CELL LINE; FAMILY; FOUNDER EFFECT; GENETIC TRANSFECTION; GENETICS; GENOTYPE; HAPLOTYPE; HEARING IMPAIRMENT; TUNISIA;

ANIMALS; CELL LINE; DNA, COMPLEMENTARY; FAMILY; FOUNDER EFFECT; GENETIC LINKAGE; GENOTYPE; GLYCOSYLATION; HAPLOTYPES; HEARING LOSS; HUMANS; MEMBRANE PROTEINS; MEMBRANE TRANSPORT PROTEINS; MUTATION, MISSENSE; TRANSFECTION; TUNISIA;

EID: 77954603950     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01360.x     Document Type: Article

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