POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism

American Journal of Human Genetics

Volumn 91, Issue 2, 2012, Pages 330-336

  Shaheen, Ranad ^a   Faqeih, Eissa ^b   Shamseldin, Hanan E ^a   Noche, Ramil R ^c   Sunker, Asma ^a   Alshammari, Muneera J ^a,e   Al Sheddi, Tarfa ^a   Adly, Nouran ^a   Al Dosari, Mohammed S ^a,d   Megason, Sean G ^c   Al Husain, Muneera ^e   Al Mohanna, Futwan ^a   Alkuraya, Fowzan S ^a,e,f  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING FAHAD MEDICAL CITY   (Saudi Arabia)

^c HARVARD MEDICAL SCHOOL   (United States)

^d KING SAUD UNIVERSITY   (Saudi Arabia)

^e KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^f ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEOME; SMALL INTERFERING RNA;

ARTICLE; CASE REPORT; CENTRIOLE; CHILD; DWARFISM; FAMILY; FEMALE; GENE; GENE IDENTIFICATION; HUMAN; MALE; MITOSIS; MITOSIS SPINDLE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POC1A GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SPLICEOSOME; VERTEBRATE;

BASE SEQUENCE; CENTRIOLES; CILIA; DWARFISM; FEMALE; GENE COMPONENTS; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MITOTIC SPINDLE APPARATUS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEINS; RNA INTERFERENCE; RNA, SMALL INTERFERING; SEQUENCE ANALYSIS, DNA;

CHLAMYDOMONAS; VERTEBRATA;

EID: 84864920718     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.05.025     Document Type: Article

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