Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?
about
Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2Congenital neutropenia: diagnosis, molecular bases and patient management.Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1.Multi-organellar disorders of pigmentation: tied up in traffic.Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities.Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?Immunodeficiency as a component of recognizable syndromes.
P2860
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P2860
Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?
description
1994 nî lūn-bûn
@nan
1994 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Oculocutaneous albinism, immun ...... autosomal recessive syndrome?
@ast
Oculocutaneous albinism, immun ...... autosomal recessive syndrome?
@en
type
label
Oculocutaneous albinism, immun ...... autosomal recessive syndrome?
@ast
Oculocutaneous albinism, immun ...... autosomal recessive syndrome?
@en
prefLabel
Oculocutaneous albinism, immun ...... autosomal recessive syndrome?
@ast
Oculocutaneous albinism, immun ...... autosomal recessive syndrome?
@en
P2093
P356
P1476
Oculocutaneous albinism, immun ...... autosomal recessive syndrome?
@en
P2093
Gierth-Fiebig K
P304
P356
10.1002/AJMG.1320500303
P577
1994-04-01T00:00:00Z