Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease

PLoS ONE

Volumn 9, Issue 4, 2014, Pages

  Hao, Xiwei ^a   Liu, Shiguo ^a   Dong, Qian ^a   Zhang, Hong ^a   Zhao, Jing ^a   Su, Lin ^a  

^a QINGDAO UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; FIBROCYSTIN; VALINE; CELL SURFACE RECEPTOR; PKHD1 PROTEIN, HUMAN; STOP CODON;

AMINO ACID SUBSTITUTION; ARTICLE; CAROLI DISEASE; CASE REPORT; CHILD; CHINESE; CHROMOSOME; CODON; CONTROLLED STUDY; DIAGNOSTIC VALUE; FAMILY; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PKHD1 GENE; SCHOOL CHILD; STOP CODON; TWINS; WHOLE EXOME SEQUENCING; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; CLINICAL TRIAL; EXOME; GENETICS; HETEROZYGOTE;

AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; CAROLI DISEASE; CHILD; CHINA; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXOME; FAMILY; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; RECEPTORS, CELL SURFACE; TWINS;

EID: 84899408988     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0092661     Document Type: Article

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