Article
Origins of hyperphenylalaninemia in Israel.
European journal of human genetics : EJHG - 1 Jan 1994
Kleiman S, Avigad S, Vanagaite L, Shmuelevitz A, David M, Eisensmith R C, Brand N, Schwartz G, Rey F, Munnich A, Woo S L, Shiloh Y
Abstract excerpt
Mutations and polymorphisms at the phenylalanine hydroxylase (PAH) gene were used to study the genetic diversity of the Jewish and Palestinian Arab populations in Israel. PAH mutations are responsible for a large variety of hyperphenylalaninemias (HPAs), ranging from the autosomal recessive disease phenylketonuria to various degrees of nonclinical HPA. Seventy-two Jewish and 36 Palestinian Arab families with...
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