A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families

Journal of Human Genetics

Volumn 58, Issue 7, 2013, Pages 480-489

  Al Hamed, Mohamed H ^a,b   Al Sabban, Essam ^a   Al Mojalli, Hamad ^a   Al Harbi, Naffaa ^a   Faqeih, Eissa ^c   Al Shaya, Hammad ^c   Alhasan, Khalid ^d   Al Hissi, Safaa ^a   Rajab, Mohamed ^a   Edwards, Noel ^b   Al Abbad, Abbas ^a   Al Hassoun, Ibrahim ^a   Sayer, John A ^b   Meyer, Brian F ^a  

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

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c KING FAHAD MEDICAL CITY   (Saudi Arabia)

^d KING SAUD UNIVERSITY   (Saudi Arabia)

Author keywords

Consanguineous; Mutation; Nephrotic

Indexed keywords

CD2 ASSOCIATED PROTEIN; ENDONUCLEASE; MYO1E PROTEIN; NEI ENDONUCLEASE VIII LIKE 1; NEPHRIN; PLCE1 PROTEIN; PODOCIN; PTPRO PROTEIN; UNCLASSIFIED DRUG; WT1 PROTEIN;

ARTICLE; COMPUTER MODEL; CONGENITAL NEPHROTIC SYNDROME; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOGENICITY; SAUDI ARABIA;

CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC TESTING; HOMOZYGOTE; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MUTATION; MYOSIN TYPE I; NEPHROTIC SYNDROME; PHOSPHOINOSITIDE PHOSPHOLIPASE C; SAUDI ARABIA;

EID: 84880854925     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2013.27     Document Type: Article

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