A New PKD-1 Mutation Discovered in a Black African Woman With Autosomal Polycystic Kidney Disease

scientific article published on 30 March 2013

A New PKD-1 Mutation Discovered in a Black African Woman With Autosomal Polycystic Kidney Disease is …
instance of (P31):
case reportQ2782326
scholarly articleQ13442814

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P356DOI10.5812/NUMONTHLY.6651
P932PMC publication ID3703138
P698PubMed publication ID23841043
P5875ResearchGate publication ID248385688

P2093author name stringSidy Mohamed Seck
Boucar Diouf
Serigne Guèye
P2860cites workCharacterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndromeQ37374452
Unified criteria for ultrasonographic diagnosis of ADPKD.Q41829694
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney diseaseQ42927109
Mutation analysis of PKD1 gene in Indian population.Q44559120
Patterns of autosomal dominant polycystic kidney diseases in black Africans.Q46717365
Familial polycystic kidney disease in Nigeria: a report of two cases.Q50626500
Autosomal dominant polycystic kidney diseaseQ55898854
Polycystic kidney disease: The complete structure of the PKD1 gene and its proteinQ56535688
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney diseaseQ80507407
P433issue2
P407language of work or nameEnglishQ1860
P304page(s)769-772
P577publication date2013-03-30
P1433published inNephro-urology monthlyQ26842764
P1476titleA New PKD-1 Mutation Discovered in a Black African Woman With Autosomal Polycystic Kidney Disease
P478volume5

Reverse relations

Q33722442Exon sequencing of PKD1 gene in an Iranian patient with autosomal-dominant polycystic kidney disease.cites workP2860

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