Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome

Journal of human genetics

Volumn 59, Issue 9, 2014, Pages 536-539

  Feng, Lei ^a   Zhou, Daizhan ^a   Zhang, Zhou ^a   Liu, Yun ^a   Yang, Yabo ^a  

^a THE SECOND AFFILIATED HOSPITAL OF ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

[No Author keywords available]

Indexed keywords

HDAC8 PROTEIN, HUMAN; HISTONE DEACETYLASE; REPRESSOR PROTEIN;

AMINO ACID SEQUENCE; CASE REPORT; CHILD; DE LANGE SYNDROME; DNA SEQUENCE; EXOME; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEAR FAMILY; PATHOLOGY; PEDIGREE; PROCEDURES; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SEQUENCE; CHILD; DE LANGE SYNDROME; EXOME; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HISTONE DEACETYLASES; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NUCLEAR FAMILY; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRESSOR PROTEINS; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84927173317     PISSN: None     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2014.60     Document Type: Article

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