Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe
about
Activin receptor-like kinases: a diverse family playing an important role in cancerA hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasiaTwo novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.BMP signalling in skeletal development, disease and repair.Transforming Growth Factor β Superfamily Signaling in Development of Colorectal Cancer.Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.
P2860
Q28066886-CB1D577B-7F76-4D30-994A-2B58CDD37B89Q28647893-4A8BF261-F9C6-4858-8122-13FC228FF227Q36695753-20C65B62-BD58-479E-8DF7-2E87482C867AQ38740288-36671F5E-0CCB-4641-AAC7-B7DDFF963D73Q38988997-4966AA5D-1556-4A4C-835C-B4A6456C535AQ40917906-0F3B26AD-8017-4978-B9EB-C0A66A31E69AQ48264737-48E8D1D0-5E72-4B7E-A29F-F140219C76EAQ52340985-B933D58A-C8B2-4352-AFAA-DB5E1672CCF2
P2860
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe
description
2014 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունիսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2014
@ast
im Juni 2014 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2014/06/01)
@sk
vědecký článek publikovaný v roce 2014
@cs
wetenschappelijk artikel (gepubliceerd op 2014/06/01)
@nl
наукова стаття, опублікована в червні 2014
@uk
مقالة علمية (نشرت في يونيو 2014)
@ar
name
Homozygous missense and nonsen ...... ic chondrodysplasia-type Grebe
@ast
Homozygous missense and nonsen ...... ic chondrodysplasia-type Grebe
@en
Homozygous missense and nonsen ...... ic chondrodysplasia-type Grebe
@nl
type
label
Homozygous missense and nonsen ...... ic chondrodysplasia-type Grebe
@ast
Homozygous missense and nonsen ...... ic chondrodysplasia-type Grebe
@en
Homozygous missense and nonsen ...... ic chondrodysplasia-type Grebe
@nl
prefLabel
Homozygous missense and nonsen ...... ic chondrodysplasia-type Grebe
@ast
Homozygous missense and nonsen ...... ic chondrodysplasia-type Grebe
@en
Homozygous missense and nonsen ...... ic chondrodysplasia-type Grebe
@nl
P2093
P2860
P50
P356
P1476
Homozygous missense and nonsen ...... ic chondrodysplasia-type Grebe
@en
P2093
Alexandra Deichsel
Christian Bassir
Guntram Borck
Jamil Ahmad
Luitgard M. Graul-Neumann
Naseebullah Kakar
Randi Koll
Sandra C. Doelken
Stefan Mundlos
Thomas D. Mueller
P2860
P2888
P304
P356
10.1038/EJHG.2013.222
P577
2014-06-01T00:00:00Z