Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis (Q28143844)
scientific article (publication date: 13 November 2000)
Language:
Current Data About Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis
(P31) (Q13442814)

(P304) 174-7

(P407) (Q1860)

(P433) 2

(P478) 95

(P577) Monday, November 13, 2000

(P921) (Q998273)
(P887)

(Q114049690)
(P887)

(P1433) (Q15755121)

(P1476) "Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis" (language: en)

(P2093) J Löffler
(P1545) 1

A Trojovsky
(P1545) 2

B Casati
(P1545) 3

P M Kroisel
(P1545) 4

G Utermann
(P1545) 5

(P2860) (Q28140706)
(P248)
(P854) https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C174%3A%3AAID-AJMG16%3E3.0.CO%3B2-9
(P813) Sunday, January 21, 2018

(Q24670249)
(P248)
(P854) https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C174%3A%3AAID-AJMG16%3E3.0.CO%3B2-9
(P813) Sunday, January 21, 2018

(Q33635161)
(P248)
(P854) https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C174%3A%3AAID-AJMG16%3E3.0.CO%3B2-9
(P813) Sunday, January 21, 2018

(Q41737731)
(P248)
(P854) https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C174%3A%3AAID-AJMG16%3E3.0.CO%3B2-9
(P813) Sunday, January 21, 2018

(Q52224994)
(P248)
(P854) https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C174%3A%3AAID-AJMG16%3E3.0.CO%3B2-9
(P813) Sunday, January 21, 2018

(Q24310118)
(P248)
(P854) https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C174%3A%3AAID-AJMG16%3E3.0.CO%3B2-9
(P813) Sunday, January 21, 2018

(Q51991725)
(P248)
(P854) https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C174%3A%3AAID-AJMG16%3E3.0.CO%3B2-9
(P813) Sunday, January 21, 2018

(Q33706385)
(P248)
(P854) https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C174%3A%3AAID-AJMG16%3E3.0.CO%3B2-9
(P813) Sunday, January 21, 2018

(Q33680984)
(P248)
(P854) https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C174%3A%3AAID-AJMG16%3E3.0.CO%3B2-9
(P813) Sunday, January 21, 2018

(Q24678423)
(P248)
(P854) https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C174%3A%3AAID-AJMG16%3E3.0.CO%3B2-9
(P813) Sunday, January 21, 2018

(Q34256513)
(P248)
(P854) https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C174%3A%3AAID-AJMG16%3E3.0.CO%3B2-9
(P813) Sunday, January 21, 2018

(Q41929357)
(P248)
(P854) https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C174%3A%3AAID-AJMG16%3E3.0.CO%3B2-9
(P813) Sunday, January 21, 2018

(Q24539117)
(P248)
(P854) https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C174%3A%3AAID-AJMG16%3E3.0.CO%3B2-9
(P813) Sunday, January 21, 2018

(Q24539160)
(P248)
(P854) https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C174%3A%3AAID-AJMG16%3E3.0.CO%3B2-9
(P813) Sunday, January 21, 2018

(Q24539027)
(P248)
(P854) https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C174%3A%3AAID-AJMG16%3E3.0.CO%3B2-9
(P813) Sunday, January 21, 2018

(Q71959076)
(P248)
(P854) https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C174%3A%3AAID-AJMG16%3E3.0.CO%3B2-9
(P813) Sunday, January 21, 2018

(Q71870997)
(P248)
(P854) https://api.crossref.org/works/10.1002%2F1096-8628%2820001113%2995%3A2%3C174%3A%3AAID-AJMG16%3E3.0.CO%3B2-9
(P813) Sunday, January 21, 2018

other details
description scientific article (publication date: 13 November 2000)

External Links
(P356) 10.1002/1096-8628(20001113)95:2<174::AID-AJMG16>3.0.CO;2-9
(P698) 11078571