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A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping.

A novel type of infantile nephronophthisis was identified in an extended Bedouin family from Israel. This disease has an autosomal recessive mode of inheritance, with the phenotypic presentation ranging from a Potter-like syndrome to hyperechogenic kidneys, renal insufficiency, hypertension, and hyp...

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Bibliografiske detaljer
Main Authors: Haider, N B, Carmi, R, Shalev, H, Sheffield, V C, Landau, D
Format: Artigo
Sprog:Inglês
Udgivet: 1998
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377550/
https://ncbi.nlm.nih.gov/pubmed/9792867
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