PMID- 10369742
OWN - NLM
STAT- MEDLINE
DCOM- 19990913
LR  - 20181201
IS  - 0890-8508 (Print)
IS  - 0890-8508 (Linking)
VI  - 13
IP  - 3
DP  - 1999 Jun
TI  - Two novel missense mutations causing adrenoleukodystrophy in Italian patients.
PG  - 179-82
AB  - The authors present two new missense mutations in exon 1 of the
      adrenoleukodystrophy (ALD) gene. The first, a C813T transition, results in the
      substitution Pro143 Ser in the third putative transmembrane domain of the
      adrenoleukodystrophy protein (ALDP) in an adult onset case. The second, a de novo
      C709T transition, results in a substitution Ser 108 Leu between the second and
      the third putative transmembrane segments, in a childhood case.
CI  - Copyright 1999 Academic Press.
FAU - Perusi, C
AU  - Perusi C
AD  - Ist. Biologia e Genetica, Universita di Verona, Italia.
FAU - Gomez-Lira, M
AU  - Gomez-Lira M
FAU - Mottes, M
AU  - Mottes M
FAU - Pignatti, P F
AU  - Pignatti PF
FAU - Bertini, E
AU  - Bertini E
FAU - Cappa, M
AU  - Cappa M
FAU - Vigliani, M C
AU  - Vigliani MC
FAU - Schiffer, D
AU  - Schiffer D
FAU - Rizzuto, N
AU  - Rizzuto N
FAU - Salviati, A
AU  - Salviati A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Mol Cell Probes
JT  - Molecular and cellular probes
JID - 8709751
RN  - 0 (ABCD1 protein, human)
RN  - 0 (ATP Binding Cassette Transporter, Subfamily D, Member 1)
RN  - 0 (ATP-Binding Cassette Transporters)
RN  - 0 (Membrane Proteins)
RN  - 452VLY9402 (Serine)
RN  - 9DLQ4CIU6V (Proline)
RN  - GMW67QNF9C (Leucine)
SB  - IM
MH  - ATP Binding Cassette Transporter, Subfamily D, Member 1
MH  - ATP-Binding Cassette Transporters/*genetics
MH  - Adrenoleukodystrophy/*genetics
MH  - Adult
MH  - Child
MH  - Female
MH  - Humans
MH  - Italy
MH  - Leucine/genetics
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - *Mutation, Missense
MH  - Pedigree
MH  - Proline/genetics
MH  - Serine/genetics
EDAT- 1999/06/17 00:00
MHDA- 1999/06/17 00:01
CRDT- 1999/06/17 00:00
PHST- 1999/06/17 00:00 [pubmed]
PHST- 1999/06/17 00:01 [medline]
PHST- 1999/06/17 00:00 [entrez]
AID - 10.1006/mcpr.1999.0232 [doi]
AID - S0890-8508(99)90232-3 [pii]
PST - ppublish
SO  - Mol Cell Probes. 1999 Jun;13(3):179-82. doi: 10.1006/mcpr.1999.0232.