Authors:
MADHATHERI SL
TROMP G
GUSTAVSON KH
KUIVANIEMI H
Citation: Sl. Madhatheri et al., SUBSTITUTION OF GLUTAMIC-ACID FOR GLYCINE-589 IN THE TRIPLE-HELICAL DOMAIN OF TYPE-III PROCOLLAGEN (COL3A1) IN A FAMILY WITH VARIABLE PHENOTYPE OF THE EHLERS-DANLOS SYNDROME TYPE-IV, Human molecular genetics, 3(3), 1994, pp. 511-512
Authors:
KUIVANIEMI H
PROCKOP DJ
WU Y
MADHATHERI SL
KLEINERT C
EARLEY JJ
JOKINEN A
STOLLE C
MAJAMAA K
MYLLYLA VV
NORRGARD O
SCHIEVINK WI
MOKRI B
FUKAWA O
TERBERG JWM
DEPAEPE A
LOZANO AM
LEBLANC R
RYYNANEN M
BAXTER BT
SHIKATA H
FERRELL RE
TROMP G
Citation: H. Kuivaniemi et al., EXCLUSION OF MUTATIONS IN THE GENE FOR TYPE-III COLLAGEN (COL3A1) AS A COMMON-CAUSE OF INTRACRANIAL ANEURYSMS OR CERVICAL ARTERY DISSECTIONS - RESULTS FROM SEQUENCE-ANALYSIS OF THE CODING SEQUENCES OF TYPE-IIICOLLAGEN FROM 55 UNRELATED PATIENTS, Neurology, 43(12), 1993, pp. 2652-2658
Authors:
TROMP G
WU YL
PROCKOP DJ
MADHATHERI SL
KLEINERT C
EARLEY JJ
ZHUANG JP
NORRGARD O
DARLING RC
ABBOTT WM
COLE CW
JAAKKOLA P
RYYNANEN M
PEARCE WH
YAO JST
MAJAMAA K
SMULLENS SN
GATALICA Z
FERRELL RE
JIMENEZ SA
JACKSON CE
MICHELS VV
KAYE M
KUIVANIEMI H
Citation: G. Tromp et al., SEQUENCING OF CDNA FROM 50 UNRELATED PATIENTS REVEALS THAT MUTATIONS IN THE TRIPLE-HELICAL DOMAIN OF TYPE-III PROCOLLAGEN ARE AN INFREQUENTCAUSE OF AORTIC-ANEURYSMS, The Journal of clinical investigation, 91(6), 1993, pp. 2539-2545