HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1 -/- mice

American Journal of Human Genetics

Volumn 91, Issue 1, 2012, Pages 171-179

  Webb, Bryn D ^a   Shaaban, Sherin ^b,c,d,e   Gaspar, Harald ^a,f,o   Cunha, Luis F ^a,g   Schubert, Christian R ^b,c,h,i   Hao, Ke ^a   Robson, Caroline D ^b   Chan, Wai Man ^b,j   Andrews, Caroline ^b,c,j   MacKinnon, Sarah ^b   Oystreck, Darren T ^k,l   Hunter, David G ^b,c   Iacovelli, Anthony J ^a   Ye, Xiaoqian ^a   Camminady, Anne ^f   Engle, Elizabeth C ^b,c,h,j   Jabs, Ethylin Wang ^a,m,n  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d MANSOURA UNIVERSITY   (Egypt)

^e Dubai Harvard Foundation for Medical Research   (United States)

^f UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^g MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^h MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

ⁱ USA   (United States)

^j HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^k KING SAUD UNIVERSITY   (Saudi Arabia)

^l UNIVERSITY OF STELLENBOSCH   (South Africa)

^m JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁿ JOHNS HOPKINS UNIVERSITY   (United States)

^o UNIVERSITY OF FREIBURG   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; HOMEODOMAIN PROTEIN; PROTEIN HOMEOBOX B1; THYMINE; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BINDING ASSAY; CASE REPORT; CHILD; CONTROLLED STUDY; FACIAL NERVE PARALYSIS; FEMALE; GENETIC TRANSCRIPTION; HEARING LOSS; HOMEOBOX; HOMEOBOX B1 GENE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYDROGEN BOND; IN VITRO STUDY; MALE; MISSENSE MUTATION; MOEBIUS SYNDROME; MOLECULAR MODEL; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DNA BINDING; SCHOOL CHILD; STATIC ELECTRICITY; STRABISMUS;

ANIMALS; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; FACIAL PARALYSIS; FEMALE; FOUNDER EFFECT; HEARING LOSS, SENSORINEURAL; HOMEODOMAIN PROTEINS; HUMANS; MALE; MICE; MOBIUS SYNDROME; MODELS, MOLECULAR; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; STRABISMUS; TRANSCRIPTION, GENETIC; TRANSCRIPTIONAL ACTIVATION;

MUS;

EID: 84863987838     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.05.018     Document Type: Article

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