MOLECULAR GENETICS OF HEREDITARY MOTOR SENSORY NEUROPATHIES
- 3 Anni 1992/1995
- 67.139€ Totale Fondi
Descrizione non disponibile
Pubblicazioni Scientifiche
- 1995 NEUROEPIDEMIOLOGY
FREQUENCY OF DUPLICATION AT 17P11.2 IN FAMILIES OF NORTHEAST ITALY WITH CHARCOT-MARIE-TOOTH DISEASE TYPE-1
- 1994 JOURNAL OF MEDICAL GENETICS
NONRADIOACTIVE DETECTION OF 17P11.2-DUPLICATION IN CMT1A - A STUDY OF 78 PATIENTS
- 1994 JOURNAL OF MEDICAL GENETICS
X-LINKED CHARCOT-MARIE-TOOTH DISEASE (CMTX1) - A STUDY OF 15 FAMILIES WITH 12 HIGHLY INFORMATIVE POLYMORPHISMS
- 1992 HUMAN GENETICS
FURTHER EVIDENCE OF A DUPLICATION IN 17P11.2 IN FAMILIES WITH RECURRENCE OF HMSN-IA (CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-IA)
- 1996 HUMAN MUTATION
Novel missense mutation of the Connexin 32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy
