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6 in total

1. Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.

Authors: M H Delfau; C Picat; F De Rooij; G Voortman; J C Deybach; Y Nordmann; B Grandchamp
Journal: Am J Hum Genet Date: 1991-08 Impact factor: 11.025

2. RFLP analysis of three different types of acute intermittent porphyria.

Authors: R Kauppinen; L Peltonen; A Palotie; P Mustajoki
Journal: Hum Genet Date: 1990-07 Impact factor: 4.132

3. Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.

Authors: M H Delfau; C Picat; F W de Rooij; K Hamer; M Bogard; J H Wilson; J C Deybach; Y Nordmann; B Grandchamp
Journal: J Clin Invest Date: 1990-11 Impact factor: 14.808

4. Acute intermittent porphyria: prevalence of pathogenic HMBS variants in China, and epidemiological survey in Hebei Province, China.

Authors: Liyan Ma; Yu Tian; Xuan Qi; Pei Li; Jie Li; Qing Teng; Yuelin Ma; Songyun Zhang
Journal: Ann Transl Med Date: 2022-05

5. Linkage disequilibrium between DNA polymorphisms within the porphobilinogen deaminase gene.

Authors: G A Scobie; A J Urquhart; G H Elder; N A Kalsheker; D H Llewellyn; J Smyth; P R Harrison
Journal: Hum Genet Date: 1990-07 Impact factor: 4.132

6. No association between RFLPs at the porphobilinogen deaminase gene and schizophrenia.

Authors: M J Owen; R Mant; E Parfitt; J Williams; P Asherson; G O'Mahoney; J Van Os; D Llewellyn; D Collier; M Gill
Journal: Hum Genet Date: 1992 Sep-Oct Impact factor: 4.132

6 in total