Publications:

The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014.

Jimd Reports

Ohlsson, Annika A; Bruhn, Helene H; Nordenström, Anna A; Zetterström, Rolf H RH; Wedell, Anna A; von Döbeln, Ulrika U

Publication Date: 2017

Variant appearance in text: PAH: 229T>C; Tyr77His

PubMed Link: 27469133

Variant Present in the following documents:

• Main text

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TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.

Journal Of Medical Genetics

Kerstjens-Frederikse, Wilhelmina S WS; Bongers, Ernie M H F EM; Roofthooft, Marcus T R MT; Leter, Edward M EM; Douwes, J Menno JM; Van Dijk, Arie A; Vonk-Noordegraaf, Anton A; Dijk-Bos, Krista K KK; Hoefsloot, Lies H LH; Hoendermis, Elke S ES; Gille, Johan J P JJ; Sikkema-Raddatz, Birgit B; Hofstra, Robert M W RM; Berger, Rolf M F RM

Publication Date: 2013-08

Variant appearance in text: PAH: 229T>C

PubMed Link: 23592887

Variant Present in the following documents:

• Main text
• jmedgenet-2012-101152.pdf
• jmedgenet-2012-101152-s2.pdf

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The population genetics of the Jewish people.

Human Genetics

Ostrer, Harry H; Skorecki, Karl K

Publication Date: 2013-02

Variant appearance in text: PAH: Y77H

PubMed Link: 23052947

Variant Present in the following documents:

• 439_2012_1235_MOESM1_ESM.xls, sheet 1

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