Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, malik-percin type

American Journal of Human Genetics

Volumn 95, Issue 6, 2014, Pages 649-659

  Malik, Sajid ^a,b   Percin, Ferda E ^c   Bornholdt, Dorothea ^a   Albrecht, Beate ^d   Percesepe, Antonio ^e   Koch, Manuela C ^a   Landi, Antonio ^e   Fritz, Barbara ^a   Khan, Rizwan ^b   Mumtaz, Sara ^b   Akarsu, Nurten A ^f   Grzeschik, Karl Heinz ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b QUAID I AZAM UNIVERSITY   (Pakistan)

^c GAZI UNIVERSITY FACULTY OF MEDICINE   (Turkey)

^d UNIVERSITY HOSPITAL ESSEN   (Germany)

^e UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^f HACETTEPE UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR BASIC HELIX LOOP HELIX A9; UNCLASSIFIED DRUG; BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; BHLHA9 PROTEIN, HUMAN; PROTEIN BINDING;

ALLELE; ARTICLE; BINDING SITE; CELL NUCLEUS; CLINICAL ARTICLE; CLINODACTYLY; COS 7 CELL LINE; CYTOPLASM; DIMERIZATION; DNA BINDING; E BOX ELEMENT; FEMALE; GENE MAPPING; GENE MUTATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; MALE; MESOAXIAL SYNOSTOTIC SYNDACTYLY MALIK PERCIN TYPE; MISSENSE MUTATION; SYNDACTYLY; TRANSCRIPTION INITIATION; TRANSIENT EXPRESSION; AMINO ACID SEQUENCE; CASE REPORT; CONGENITAL MALFORMATION; FINGER; GENETICS; GENOTYPE; ITALY; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PAKISTAN; PEDIGREE; PHENOTYPE; PROTEIN TERTIARY STRUCTURE; REPORTER GENE; SEQUENCE ALIGNMENT; TOE; TURKEY; YOUNG ADULT;

AMINO ACID SEQUENCE; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; BINDING SITES; DIMERIZATION; DNA MUTATIONAL ANALYSIS; FEMALE; FINGERS; GENES, REPORTER; GENOTYPE; HAPLOTYPES; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION, MISSENSE; PAKISTAN; PEDIGREE; PHENOTYPE; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ALIGNMENT; SYNDACTYLY; TOES; TURKEY; YOUNG ADULT;

EID: 84919596990     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.10.012     Document Type: Article

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