The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly

European Journal of Human Genetics

Volumn 19, Issue 8, 2011, Pages 851-856

  Chograni, Manèl ^a   Rejeb, Imen ^a   Jemaa, Lamia Ben ^a,b   Chabouni, Myriam ^a,b   Bouhamed, Habiba Chaabouni ^a,b  

^a UNIVERSITY OF TUNIS EL MANAR   (Tunisia)

^b CHARLES NICOLLE HOSPITAL   (Tunisia)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA FLANKING REGION; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE ACTIVITY; GENETIC CODE; HAPLOTYPE; HEART DISEASE; HUMAN; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; NANCE HORAN SYNDROME; NANCE HORAN SYNDROME GENE; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TUNISIA; X CHROMOSOME LINKED DISORDER;

3' UNTRANSLATED REGIONS; AMINO ACID SEQUENCE; CATARACT; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC DISEASES, X-LINKED; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NUCLEAR PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; TOOTH ABNORMALITIES; TUNISIA;

EID: 79960636168     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.52     Document Type: Article

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