Publications:

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.

Jimd Reports

Carducci, Carla C; Amayreh, Wajdi W; Ababneh, Haneen H; Mahasneh, Amjad A; Al Rababah, Buthaina B; Al Qaqa, Kefah K; Al Aqeel, Momen M; Artiola, Cristiana C; Tolve, Manuela M; D'Amici, Sirio S; Shen, Nan N; Yu, Yongguo Y; Hillert, Alicia A; Himmelreich, Nastassja N; Okun, Jürgen G JG; Hoffmann, Georg F GF; Blau, Nenad N

Publication Date: 2020-09

Variant appearance in text: PAH: Leu197Phe

PubMed Link: 32905092

Variant Present in the following documents:

• Main text
• JMD2-55-59.pdf

View BVdb publication page