Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome

Clinical Genetics

Volumn 88, Issue 1, 2015, Pages 80-84

  Seo, S H ^a   Hwang, S M ^b   Ko, J M ^c   Ko, J S ^c   Hyun, Y J ^a   Cho, S I ^a   Park, H ^a   Kim, S Y ^d   Seong, M W ^a   Park, S S ^a  

^a Seoul National University Hospital   (South Korea)

^b Seoul National University Bundang Hospital   (South Korea)

^c Seoul National University College of Medicine   (South Korea)

^d National Medical Center   (South Korea)

Author keywords

ARC syndrome; Arthrogryposis, renal dysfunction and cholestasis syndrome; VPS33B

Indexed keywords

COMPLEMENTARY DNA; MEMBRANE PROTEIN; MESSENGER RNA; UNCLASSIFIED DRUG; VACUOLAR PROTEIN SORTING 33 HOMOLOGUE B; RNA SPLICING; VESICULAR TRANSPORT PROTEIN; VPS33B PROTEIN, HUMAN;

ADULT; ARTHROGRYPOSIS; ARTICLE; BIOPSY; CASE REPORT; CHILD; CHOLESTASIS; CODON; DIAGNOSTIC TEST; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; KIDNEY DISEASE; MALE; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SCHOOL CHILD; SEQUENCE ANALYSIS; DNA MUTATIONAL ANALYSIS; GENETICS; INFANT; MUTATION; NEWBORN; RENAL INSUFFICIENCY; SOUTH KOREA;

ARTHROGRYPOSIS; CHOLESTASIS; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PHENOTYPE; RENAL INSUFFICIENCY; REPUBLIC OF KOREA; RNA SPLICE SITES; VESICULAR TRANSPORT PROTEINS;

EID: 84930416134     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12442     Document Type: Article

References (10)

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